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34,778 results for “diseases”

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zenodo44/100

Ultrasensitive ctDNA detection for preoperative disease stratification in early-stage lung adenocarcinoma

Code and data for the MS "Ultrasensitive ctDNA detection for preoperative disease stratification in early-stage lung adenocarcinoma"

opencc-by-4.0Oct 2023View details →

zenodo44/100

Genome-wide association analyses identify novel Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

The Brugada syndrome GWAS summary statistics Brugada syndrome is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. We performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with Brugada syndrome and 10,001 controls.

opencc-by-4.0Dec 2021View details →

zenodo44/100

TBGA: A Large-Scale Gene-Disease Association Dataset for Biomedical Relation Extraction

This repository contains the TBGA dataset. TBGA is a large-scale, semi-automatically annotated dataset for Gene-Disease Association (GDA) extraction. The dataset consists of three text files, corresponding to train, validation, and test sets, plus an additional JSON file containing the mapping between relation names and IDs. Each record in train, validation, or test files corresponds to a single GDA extracted from a sentence. Records are represented as JSON objects with the following structure: <ul> <li>text: sentence from which the GDA was extracted.</li> <li>relation: relation name associated with the given GDA.</li> <li>h: JSON object representing the gene entity, composed of: <ul> <li>id: NCBI Entrez ID associated with the gene entity.</li> <li>name: NCBI official gene symbol associated with the gene entity.</li> <li>pos: list consisting of starting position and length of the gene mention within text.</li> </ul> </li> <li>t: JSON object representing the disease entity, composed of: <ul> <li>id: UMLS CUI associated with the disease entity.</li> <li>name: UMLS preferred term associated with the disease entity.</li> <li>pos: list consisting of starting position and length of the disease mention within text.</li> </ul> </li> </ul> TBGA contains over 200,000 instances and 100,000 bags. The zip file consists of one folder, named TBGA, containing the files corresponding to the dataset. If you use or extend our work, please cite the following: https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-022-04646-6#citeas TBGA paper can be found at: <a href="https://rdcu.be/cKkY2">https://rdcu.be/cKkY2</a> TBGA code is available at: https://github.com/GDAMining/gda-extraction

opencc-by-4.0Dec 2021View details →

zenodo44/100

CADD-SV - A framework to score the effects of structural variants in health and disease

Required annotation data-set to run the CADD-SV framework; a method to retrieve and integrate a wide set of annotations to predict the effects of SVs. Pre-scored variants as well as additional information on used features. A webserver for online scoring as well as data downloads is available at: https://cadd-sv.bihealth.org/ Source code for CADD-SV is available at GitHub: https://github.com/kircherlab/CADD-SV

opencc-by-4.0Feb 2022View details →

zenodo44/100

Characterizing and explaining impact of disease-associated mutations in proteins without known structures or structural homologues

AlphaFold and RoseTTAFold models of domains of disease associated human proteins without structures/known homologues. Tables containing the model quality, model region, sequence alignment statistics, matched FunFam, associated GO terms for the FunFam, ddG of mutation, pathogenicity of mutation, if mutation is near a predicted functional site (conserved residue/ligand binding site/protein-protein interface)

opencc-by-4.0Nov 2021View details →

zenodo44/100

Principles of gait encoding in the subthalamic nucleus of people with Parkinson's disease

Disruption of subthalamic nucleus dynamics in Parkinson’s disease leads to impairments during walking. Here, we aimed to uncover the principles through which the subthalamic nucleus encodes functional and dysfunctional walking in people with Parkinson’s disease.  We conceived a neurorobotic platform embedding an isokinetic dynamometric chair that allowed us to deconstruct key components of walking under well-controlled conditions. We exploited this platform in 18 patients with Parkinson’s disease to demonstrate that the subthalamic nucleus encodes the initiation, termination, and amplitude of leg muscle activation. We found that the same fundamental principles determine the encoding of leg muscle synergies during standing and walking. We translated this understanding into a machine learning framework that decoded muscle activation, walking states, locomotor vigor, and freezing of gait. These results expose key principles through which subthalamic nucleus dynamics encode walking, opening the possibility to operate neuroprosthetic systems with these signals to improve walking in people with Parkinson’s disease.

opencc-by-4.0Dec 2021View details →

zenodo44/100

Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"

These are the burden test results (summary statistics) for the publication: "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s Disease", Nature Genetics, 2022.   Format: tab-separated-value. Fields: <ul> <li>gene_stable_id: Ensembl gene id</li> <li>gene_name: standard gene name</li> <li>pvalue: burden test significance (likelihood ratio test, population structure correction based on 6 PCA components)</li> <li>cmac_all: sum of minor allele dosages across all contributing samples and variants</li> <li>group: variant group (LOF, LOF+REVEL>=75, LOF+REVEL>=50, LOF+REVEL>=25, see publication methods for further selection criteria).</li> <li>beta/se: beta/se of logistic ordinal regression (see publication methods). Positive = risk-increasing. Negative = risk-decreasing.</li> </ul>

opencc-by-4.0Jul 2022View details →

zenodo44/100

PheKnowLator Human Disease Knowledge Graphs - Build Data (Processed)

RELEASE V2.1.0 KNOWLEDGE GRAPH: PROCESSED DATA SOURCES  Release: <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2.0.0">v2.1.0 </a> The goal of this build was to create a knowledge graph that represented human disease mechanisms and included the central dogma. The data sources utilized in this release include many of the sources used in the initial release, as well as some new data made available by the <a href="https://ctdbase.org/">Comparative Toxicogenomics Database</a> and experimental data from the <a href="https://www.proteinatlas.org/">Human Protein Atlas</a>. Data sources are listed by type (Ontology and Data not represented in an ontology [Database Sources]). Additional details are provided for each data source below. Please see documentation on the primary release (<a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources">https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources</a>) for additional details on each data source as well as citation information. Data Access: <ul> <li><a href="https://console.cloud.google.com/storage/browser/pheknowlator/archived_builds/release_v2.1.0/build_01MAY2021?project=pheknowlator">https://console.cloud.google.com/storage/browser/pheknowlator/archived_builds/release_v2.1.0/build_01MAY2021</a></li> </ul>   ONTOLOGIES <ul> <li>Cell Ontology</li> <li>Cell Line Ontology</li> <li>Chemical Entities of Biological Interest (ChEBI) Ontology</li> <li>Gene Ontology</li> <li>Human Phenotype Ontology</li> <li>Mondo Disease Ontology</li> <li>Pathway Ontology</li> <li>Protein Ontology</li> <li>Relations Ontology</li> <li>Sequence Ontology</li> <li>Uber-Anatomy Ontology</li> <li>Vaccine Ontology</li> </ul>   Cell Ontology (CL) Homepage: <a href="https://github.com/obophenotype/cell-ontology"><code>GitHub</code></a> Citation: <blockquote> Bard J, Rhee SY, Ashburner M. <a href="https://genomebiology.biomedcentral.com/articles/10.1186/gb-2005-6-2-r21">An ontology for cell types</a>. Genome Biology. 2005;6(2):R21 </blockquote> Usage: Utilized to connect <code>transcripts</code> and <code>proteins</code> to <code>cells</code>. Additionally, the edges between this ontology and its dependencies are utilized: <ul> <li><a href="https://www.ebi.ac.uk/chebi/"><code>ChEBI</code></a></li> <li><a href="http://geneontology.org/"><code>GO</code></a></li> <li><a href="https://github.com/pato-ontology/pato/"><code>PATO</code></a></li> <li><a href="https://proconsortium.org/"><code>PRO</code></a></li> <li><a href="https://github.com/oborel/obo-relations/"><code>RO</code></a></li> <li><a href="https://uberon.github.io/"><code>UBERON</code></a></li> </ul>   Cell Line Ontology (CLO) Homepage: <a href="http://www.clo-ontology.org/"><code>http://www.clo-ontology.org/</code></a> Citation: <blockquote> Sarntivijai S, Lin Y, Xiang Z, Meehan TF, Diehl AD, Vempati UD, Schürer SC, Pang C, Malone J, Parkinson H, Liu Y. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387853/">CLO: the cell line ontology</a>. Journal of Biomedical Semantics. 2014;5(1):37 </blockquote> Usage: Utilized this ontology to map <code>cell lines</code> to <code>transcripts</code> and <code>proteins</code>. Additionally, the edges between this ontology and its dependencies are utilized: <ul> <li><a href="http://www.obofoundry.org/ontology/cl.html"><code>CL</code></a></li> <li><a href="http://disease-ontology.org/"><code>DOID</code></a></li> <li><a href="https://github.com/obophenotype/ncbitaxon"><code>NCBITaxon</code></a></li> <li><a href="https://uberon.github.io/"><code>UBERON</code></a></li> </ul>   Chemical Entities of Biological Interest (ChEBI) Homepage: <a href="https://www.ebi.ac.uk/chebi/"><code>https://www.ebi.ac.uk/chebi/</code></a> Citation: <blockquote> Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. <a href="https://academic.oup.com/nar/article-abstract/44/D1/D1214/2502583">ChEBI in 2016: Improved services and an expanding collection of metabolites</a>. Nucleic Acids Research. 2015;44(D1):D1214-9 </blockquote> Usage: Utilized to connect <code>chemicals</code> to <code>complexes</code>, <code>diseases</code>, <code>genes</code>, <code>GO biological processes</code>, <code>GO cellular components</code>, <code>GO molecular functions</code>, <code>pathways</code>, <code>phenotypes</code>, <code>reactions</code>, and <code>transcripts</code>.   Gene Ontology (GO) Homepage: <a href="http://geneontology.org/"><code>http://geneontology.org/</code></a> Citations: <blockquote> Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT, Harris MA. <a href="https://www.nature.com/articles/ng0500_25">Gene ontology: tool for the unification of biology</a>. Nature Genetics. 2000;25(1):25 The Gene Ontology Consortium. <a href="https://academic.oup.com/nar/article/47/D1/D330/5160994">The Gene Ontology Resource: 20 years and still GOing strong</a>. Nucleic Acids Research. 2018;47(D1):D330-8 </blockquote> Usage: Utilized to connect <code>biological processes</code>, <code>cellular components</code>, and <code>molecular functions</code> to <code>chemicals</code>, <code>pathways</code>, and <code>proteins</code>. Additionally, the edges between this ontology and its dependencies are utilized: <ul> <li><a href="http://www.obofoundry.org/ontology/cl.html"><code>CL</code></a></li> <li><a href="https://github.com/obophenotype/ncbitaxon"><code>NCBITaxon</code></a></li> <li><a href="https://github.com/oborel/obo-relations/"><code>RO</code></a></li> <li><a href="https://uberon.github.io/"><code>UBERON</code></a></li> </ul> Other Gene Ontology Data Used: <a href="http://geneontology.org/gene-associations/goa_human.gaf.gz"><code>goa_human.gaf.gz</code></a>   Human Phenotype Ontology (HPO) Homepage: <a href="https://hpo.jax.org/"><code>https://hpo.jax.org/</code></a> Citation: <blockquote> Köhler S, Carmody L, Vasilevsky N, Jacobsen JO, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D. <a href="https://academic.oup.com/nar/article-abstract/47/D1/D1018/5198478">Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources</a>. Nucleic Acids Research. 2018;47(D1):D1018-27 </blockquote> Usage: Utilized to connect <code>phenotypes</code> to <code>chemicals</code>, <code>diseases</code>, <code>genes</code>, and <code>variants</code>. Additionally, the edges between this ontology and its dependencies are utilized: <ul> <li><a href="http://www.obofoundry.org/ontology/cl.html"><code>CL</code></a></li> <li><a href="https://www.ebi.ac.uk/chebi/"><code>ChEBI</code></a></li> <li><a href="http://geneontology.org/"><code>GO</code></a></li> <li><a href="https://uberon.github.io/"><code>UBERON</code></a></li> </ul> Files <ul> <li>Other Human Phenotype Ontology Data Used: <a href="http://purl.obolibrary.org/obo/hp/hpoa/phenotype.hpoa"><code>phenotype.hpoa</code></a></li> </ul>   Mondo Disease Ontology (Mondo) Homepage: <a href="https://mondo.monarchinitiative.org/"><code>https://mondo.monarchinitiative.org/</code></a> Citation: <blockquote> Mungall CJ, McMurry JA, Köhler S, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E. <a href="https://academic.oup.com/nar/article-abstract/45/D1/D712/2605791">The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species</a>. Nucleic Acids Research. 2017;45(D1):D712-22 </blockquote> Usage: Utilized to connect <code>diseases</code> to <code>chemicals</code>, <code>phenotypes</code>, <code>genes</code>, and <code>variants</code>. Additionally, the edges between this ontology and its dependencies are utilized: <ul> <li><a href="http://www.obofoundry.org/ontology/cl.html"><code>CL</code></a></li> <li><a href="https://www.ncbi.nlm.nih.gov/taxonomy"><code>NCBITaxon</code></a></li> <li><a href="http://geneontology.org/"><code>GO</code></a></li> <li><a href="https://hpo.jax.org/"><code>HPO</code></a></li> <li><a href="https://uberon.github.io/"><code>UBERON</code></a></li> </ul>   Pathway Ontology (PW) Homepage: <a href="https://rgd.mcw.edu/wg/home/pathway2/"><code>rgd.mcw.edu</code></a> Citation: <blockquote> Petri V, Jayaraman P, Tutaj M, Hayman GT, Smith JR, De Pons J, Laulederkind SJ, Lowry TF, Nigam R, Wang SJ, Shimoyama M. <a href="https://www.ncbi.nlm.nih.gov/pubmed/24499703">The pathway ontology–updates and applications</a>. Journal of Biomedical Semantics. 2014;5(1):7. </blockquote> Usage: Utilized to connect <code>pathways</code> to <code>GO biological processes</code>, <code>GO cellular components</code>, <code>GO molecular functions</code>, <code>Reactome pathways</code>. Several steps are taken in order to connect <code>Pathway Ontology</code> identifiers to <code>Reactome</code> pathways and <code>GO biological processes</code>. To connect <code>Pathway Ontology</code> identifiers to <code>Reactome</code> pathways, we use <a href="https://github.com/ComPath/resources/tree/master/mappings">ComPath Pathway Database Mappings</a> developed by Daniel Domingo-Fernández (<a href="https://www.ncbi.nlm.nih.gov/pubmed/30564458">PMID:30564458</a>). Files <ul> <li>Downloaded Mapping Data <ul> <li><a href="http://compath.scai.fraunhofer.de/export_mappings"><code>curated_mappings.txt</code></a></li> <li><a href="https://github.com/ComPath/resources/blob/master/mappings/kegg_reactome.csv"><code>kegg_reactome.csv</code></a></li> </ul> </li> <li>Generated Mapping Data <ul> <li><a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/REACTOME_PW_GO_MAPPINGS.txt"><code>REACTOME_PW_GO_MAPPINGS.txt</code></a></li> </ul> </li> </ul>   Protein Ontology (PRO) Homepage: <a href="https://proconsortium.org/"><code>https://proconsortium.org/</code></a> Citation: <blockquote> Natale DA, Arighi CN, Barker WC, Blake JA, Bult CJ, Caudy M, Drabkin HJ, D’Eustachio P, Evsikov AV, Huang H, Nchoutmboube J. <a href="https://academic.oup.com/nar/article-abstract/39/suppl_1/D539/2508558">The Protein Ontology: a structured representation of protein forms and complexes</a>. Nucleic Acids Research. 2010;39(suppl_1):D539-45 </blockquote> Usage: Utilized to connect <code>proteins</code> to <code>chemicals</code>, <code>genes</code>, <code>anatomy</code>, <code>catalysts</code>, <code>cell lines</code>, <code>cofactors</code>, <code>complexes</code>, <code>GO biological processes</code>, <code>GO cellular components</code>, <code>GO molecular functions</code>, <code>pathways</code>, <code>proteins</code>, <code>reactions</code>, and <code>transcripts</code>. Additionally, the edges between this ontology and its dependencies are utilized: <ul> <li><a href="https://www.ebi.ac.uk/chebi/"><code>ChEBI</code></a></li> <li><a href="http://disease-ontology.org/"><code>DOID</code></a></li> <li><a href="http://geneontology.org/"><code>GO</code></a></li> </ul> Notes: A partial, human-only version of this ontology was used. Details on how this version of the ontology was generated can be found under the Protein Ontology section of the <a href="https://github.com/callahantiff/PheKnowLator/blob/master/notebooks/Data_Preparation.ipynb"><code>Data_Preparation.ipynb</code></a> Jupyter Notebook. Files <ul> <li> Generated Human Version Protein Ontology (PRO) <ul> <li><a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/human_pro.owl"><code>human_pro.owl</code></a> (closed with <a href="http://www.hermit-reasoner.com/">hermit reasoner</a>)</li> </ul> </li> <li> Other PRO Data Used: <a href="https://proconsortium.org/download/current/promapping.txt"><code>promapping.txt</code></a> </li> <li> Generated Mapping Data <ul> <li>Merged Gene, RNA, Protein Map: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/Merged_gene_rna_protein_identifiers.pkl"><code>Merged_gene_rna_protein_identifiers.pkl</code></a></li> <li>Ensembl Transcript-PRO Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ENTREZ_GENE_ENSEMBL_TRANSCRIPT_MAP.txt"><code>ENSEMBL_TRANSCRIPT_PROTEIN_ONTOLOGY_MAP.txt</code></a></li> <li>Entrez Gene-PRO Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ENTREZ_GENE_PRO_ONTOLOGY_MAP.txt"><code>ENTREZ_GENE_PRO_ONTOLOGY_MAP.txt</code></a></li> <li>UniProt Accession-PRO Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/UNIPROT_ACCESSION_PRO_ONTOLOGY_MAP.txt"><code>UNIPROT_ACCESSION_PRO_ONTOLOGY_MAP.txt</code></a></li> <li>STRING-PRO Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/STRING_PRO_ONTOLOGY_MAP.txt"><code>STRING_PRO_ONTOLOGY_MAP.txt</code></a></li> </ul> </li> </ul>   Relations Ontology (RO) Homepage: <a href="https://github.com/oborel/obo-relations/"><code>GitHub</code></a> Citation: <blockquote> Smith B, Ceusters W, Klagges B, Köhler J, Kumar A, Lomax J, Mungall C, Neuhaus F, Rector AL, Rosse C. <a href="https://genomebiology.biomedcentral.com/articles/10.1186/gb-2005-6-5-r46">Relations in biomedical ontologies</a>. Genome Biology. 2005;6(5):R46. </blockquote> Usage: Utilizing this ontology to connect all data sources in knowledge graph. Additionally, the ontology is queried prior to building the knowledge graph to identify all relations, their inverse properties, and their labels. Files <ul> <li>Generated RO Data <ul> <li><a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/INVERSE_RELATIONS.txt"><code>INVERSE_RELATIONS.txt</code></a></li> <li><a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/RELATIONS_LABELS.txt"><code>RELATIONS_LABELS.txt</code></a></li> </ul> </li> </ul>   Sequence Ontology (SO) Homepage: <a href="https://github.com/The-Sequence-Ontology/SO-Ontologies"><code>GitHub</code></a> Citation: <blockquote> Eilbeck K, Lewis SE, Mungall CJ, Yandell M, Stein L, Durbin R, Ashburner M. <a href="https://link.springer.com/article/10.1186/gb-2005-6-5-r44">The Sequence Ontology: a tool for the unification of genome annotations</a>. Genome Biology. 2005;6(5):R44 </blockquote> Usage: Utilized to connect <code>transcripts</code> and other genomic material like <code>genes</code> and <code>variants</code>. Files <ul> <li>Generated Mapping Data <ul> <li><a href="https://storage.googleapis.com/pheknowlator/curated_data/genomic_sequence_ontology_mappings.xlsx"><code>genomic_sequence_ontology_mappings.xlsx</code></a></li> <li><a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/SO_GENE_TRANSCRIPT_VARIANT_TYPE_MAPPING.txt"><code>SO_GENE_TRANSCRIPT_VARIANT_TYPE_MAPPING.txt</code></a></li> </ul> </li> </ul>   Uber-Anatomy Ontology (Uberon) Homepage: <a href="https://uberon.github.io/"><code>GitHub</code></a> Citation: <blockquote> Mungall CJ, Torniai C, Gkoutos GV, Lewis SE, Haendel MA. <a href="https://genomebiology.biomedcentral.com/articles/10.1186/gb-2012-13-1-r5">Uberon, an integrative multi-species anatomy ontology</a>. Genome Biology. 2012;13(1):R5 </blockquote> Usage: Utilized to connect <code>tissues</code>, <code>fluids</code>, and <code>cells</code> to <code>proteins</code> and <code>transcripts</code>. Additionally, the edges between this ontology and its dependencies are utilized: <ul> <li><a href="https://www.ebi.ac.uk/chebi/"><code>ChEBI</code></a></li> <li><a href="http://www.obofoundry.org/ontology/cl.html"><code>CL</code></a></li> <li><a href="http://geneontology.org/"><code>GO</code></a></li> <li><a href="https://proconsortium.org/"><code>PRO</code></a></li> </ul>   Vaccine Ontology (VO) Homepage: <a href="http://www.violinet.org/vaccineontology/"><code>http://www.violinet.org/vaccineontology/</code></a> Citations: <blockquote> He Y, Racz R, Sayers S, Lin Y, Todd T, Hur J, Li X, Patel M, Zhao B, Chung M, Ostrow J. <a href="https://academic.oup.com/nar/article-abstract/42/D1/D1124/1053128">Updates on the web-based VIOLIN vaccine database and analysis system</a>. Nucleic Acids Research. 2013;42(D1):D1124-32 Xiang Z, Todd T, Ku KP, Kovacic BL, Larson CB, Chen F, Hodges AP, Tian Y, Olenzek EA, Zhao B, Colby LA. <a href="https://academic.oup.com/nar/article-abstract/36/suppl_1/D923/2505793">VIOLIN: vaccine investigation and online information network</a>. Nucleic Acids Research. 2007;36(suppl_1):D923-8 </blockquote> Usage: Utilized the edges between this ontology and its dependencies: <ul> <li><a href="https://www.ebi.ac.uk/chebi/"><code>ChEBI</code></a></li> <li><a href="http://disease-ontology.org/"><code>DOID</code></a></li> <li><a href="http://geneontology.org/"><code>GO</code></a></li> <li><a href="https://proconsortium.org/"><code>PRO</code></a></li> <li><a href="https://uberon.github.io/"><code>UBERON</code></a></li> </ul>   DATABASE SOURCES <ul> <li>BioPortal</li> <li>ClinVar</li> <li>Comparative Toxicogenomics Database</li> <li>DisGeNET</li> <li>Ensembl</li> <li>GeneMANIA</li> <li>Genotype-Tissue Expression Project</li> <li>Human Genome Organisation Gene Nomenclature Committee</li> <li>Human Protein Atlas</li> <li>National Center for Biotechnology Information Gene</li> <li>Reactome Pathway Database</li> <li>Search Tool for Recurring Instances of Neighbouring Genes Database</li> <li>Universal Protein Resource Knowledgebase</li> </ul>   BioPortal Homepage: <a href="https://bioportal.bioontology.org/"><code>BioPortal</code></a> Citation: <blockquote> BioPortal. <a href="https://www.bioontology.org/wiki/LOOM">Lexical OWL Ontology Matcher (LOOM)</a> Ghazvinian A, Noy NF, Musen MA. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/pmc2815474/">Creating mappings for ontologies in biomedicine: simple methods work</a>. In AMIA Annual Symposium Proceedings 2009 (Vol. 2009, p. 198). American Medical Informatics Association </blockquote> Usage: BioPortal was utilized to obtain mappings between <code>MeSH identifiers</code> and <code>ChEBI identifiers</code> for <code>chemicals-diseases</code>, <code>chemicals-genes</code>, <code>chemical-GO biological processes</code>, <code>chemicals-GO cellular components</code>, <code>chemicals-GO molecular functions</code>, <code>chemicals-phenotypes</code>, <code>chemicals-proteins</code>, and <code>chemicals-transcripts</code>. Additional information on how this data was processed can be obtained from the <a href="https://gist.github.com/callahantiff/a28fb3160782f42f104e9ec41553af0d"><code>NCBO_rest_api.py</code></a> GitHub Gist script. ⭐ ALTERNATIVE METHOD⭐ Since the above approach can take over two days to process, we have developed an alternative solution that downloads the <a><code>mesh2021.nt</code></a> data file directly from MeSH and the <a><code>Flat_file_tab_delimited/names.tsv.gz</code></a> file directly from ChEBI. Using these files, we have recapitulated the <a href="https://www.bioontology.org/wiki/BioPortal_Mappings"><code>LOOM</code></a> algorithm implemented by BioPortal when creating mappings between these resources. The procedure is relatively straightforward and utilizes the following information from each resource: <ul> <li>For all MeSH <code>SCR Chemicals</code>, obtain the following information: <ul> <li>Identifiers: MeSH identifiers</li> <li>Labels: string labels using the <code>RDFS:label</code> object property</li> <li>Synonyms: track down all synonyms using the <code>vocab:concept</code> and <code>vocab:preferredConcept</code> object properties</li> </ul> </li> <li>For all ChEBI classes, obtain the following information: <ul> <li>Labels: string labels using the <code>RDFS:label</code> object property</li> <li>Synonyms: track down all synonyms using all <code>synonym</code> object properties</li> </ul> </li> </ul> Files <ul> <li>Generated Data: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/MESH_CHEBI_MAP.txt"><code>MESH_CHEBI_MAP.txt</code></a></li> </ul>   ClinVar Homepage: <a href="https://www.ncbi.nlm.nih.gov/clinvar/"><code>https://www.ncbi.nlm.nih.gov/clinvar/</code></a> Citation: <blockquote> Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K. <a href="https://academic.oup.com/nar/article-abstract/46/D1/D1062/4641904">ClinVar: improving access to variant interpretations and supporting evidence</a>. Nucleic Acids Research. 2017;46(D1):D1062-7 </blockquote> Usage: ClinVar was utilized to create <code>variant-gene</code>, <code>variant-disease</code>, and <code>variant-phenotype</code> edges. The original data is filtered such that only records meeting the following criteria were included: <ul> <li> <code>Assembly</code> = "GRCh38" </li> <li> <code>ClinSigSimple</code> = <code>1</code> <ul> <li> <blockquote> 1 = at least one current record submitted with an interpretation of Likely pathogenic or Pathogenic (independent of whether that record includes assertion criteria and evidence)" </blockquote> </li> </ul> </li> <li> <code>ReviewStatus</code> in ["criteria provided, multiple submitters, no conflicts", "reviewed by expert panel", "practice guideline"] </li> </ul> Files <ul> <li> Downloaded Data <ul> <li><a href="https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/variant_summary.txt.gz"><code>variant_summary.txt.gz</code></a></li> <li><a href="https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/var_citations.txt"><code>var_citations.txt</code></a></li> <li><a href="https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/allele_gene.txt.gz"><code>allele_gene.txt.gz</code></a></li> </ul> </li> <li> Generated Edge Data: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/CLINVAR_VARIANT_GENE_DISEASE_PHENOTYPE_EDGES.txt"><code>CLINVAR_VARIANT_GENE_DISEASE_PHENOTYPE_EDGES.txt</code></a> </li> </ul>   Comparative Toxicogenomics Database (CTD) Homepage: <a href="http://ctdbase.org/"><code>http://ctdbase.org/</code></a> Citations: <blockquote> Curated [chemical–gene interactions|chemical-go interactions|chemical–disease interactions|gene–pathway interactions] data were retrieved from the Comparative Toxicogenomics Database (CTD), MDI Biological Laboratory, Salisbury Cove, Maine, and NC State University, Raleigh, North Carolina. World Wide Web (URL: <a href="http://ctdbase.org/">http://ctdbase.org/</a>) Davis AP, Grondin CJ, Johnson RJ, Sciaky D, McMorran R, Wiegers J, Wiegers TC, Mattingly CJ. <a href="https://academic.oup.com/nar/article-abstract/47/D1/D948/5106145">The comparative toxicogenomics database: update 2019</a>. Nucleic Acids Research. 2018;47(D1):D948-54 </blockquote> Usage: Comparative Toxicogenomics Database (CTD) was utilized to create <code>chemical-disease</code>, <code>chemical-gene</code>, <code>chemical-GO biological process</code>, <code>chemical-GO cellular components</code>, <code>chemical-GO molecular functions</code>, <code>chemical-phenotype</code>, <code>chemical-protein</code>, <code>chemical-rna</code>, and <code>gene-pathway</code> edges. The original data is filtered such that only records meeting the following criteria were included: <ul> <li><code>chemical-disease</code>: <code>DirectEvidence</code> != ""</li> <li><code>chemical-gene</code>: <code>Organism</code> == "Homo sapiens", <code>GeneForms</code> == "gene", and affects not in <code>InteractionActions</code></li> <li><code>chemical-GO biological process</code>: <code>PhenotypeName</code> == "Biological Process" and <code>Interaction</code> <= "1.04e-47" (10th percentile)</li> <li><code>chemical-GO cellular components</code>: <code>PhenotypeName</code> == "Cellular Component" and <code>Interaction</code> <= "1.04e-47" (10th percentile)</li> <li><code>chemical-GO molecular functions</code>: <code>PhenotypeName</code> == "Molecular Function" and <code>Interaction</code> <= "1.04e-47" (10th percentile)</li> <li><code>chemical-phenotype</code>: <code>DirectEvidence</code> != ""</li> <li><code>chemical-protein</code>: <code>Organism</code> == "Homo sapiens", <code>GeneForms</code> == "protein", and affects not in <code>InteractionActions</code></li> <li><code>chemical-rna</code>: <code>Organism</code> == "Homo sapiens", <code>GeneForms</code> == "mRNA", and affects and activity not in <code>InteractionActions</code></li> <li><code>gene-pathway edges</code>: <code>PathwayName</code> == R-HSA-</li> </ul> Files <ul> <li>Downloaded Data <ul> <li>Chemical-Gene Relations: <a href="http://ctdbase.org/reports/CTD_chem_gene_ixns.tsv.gz"><code>CTD_chem_gene_ixns.tsv.gz</code></a></li> <li>Chemical-Disease/Phenotype Relations: <a href="http://ctdbase.org/reports/CTD_chemicals_diseases.tsv.gz"><code>CTD_chemicals_diseases.tsv.gz</code></a></li> <li>Chemical-GO Relations: <a href="http://ctdbase.org/reports/CTD_chem_go_enriched.tsv.gz"><code>CTD_chem_go_enriched.tsv.gz</code></a></li> <li>Gene-Pathway Relations: <a href="http://ctdbase.org/reports/CTD_genes_pathways.tsv.gz"><code>CTD_genes_pathways.tsv.gz</code></a></li> </ul> </li> </ul>   DisGeNET Homepage: <a href="https://www.disgenet.org/"><code>https://www.disgenet.org/</code></a> Citation: <blockquote> Gene-disease association data retrieved from DisGeNET v6.0 (<a href="http://www.disgenet.org/">http://www.disgenet.org/</a>), Integrative Biomedical Informatics Group GRIB/IMIM/UPF. [December, 2019]. Piñero J, Ramírez-Anguita JM, Saüch-Pitarch J, Ronzano F, Centeno E, Sanz F, Furlong LI. <a href="https://academic.oup.com/nar/advance-article-abstract/doi/10.1093/nar/gkz1021/5611674">The DisGeNET knowledge platform for disease genomics: 2019 update</a>. Nucleic Acids Research. 2019. </blockquote> Usage: DisGeNET was utilized to create <code>gene-disease</code>, and <code>gene-phenotype</code> edges. The original data is filtered such that only records meeting the following criteria were included: <code>EI</code> >= "1.0" (90th percentile). Additionally, data from this source was used to create mappings between different types of disease and phenotype identifiers, including: <ul> <li>OMIM, ORPHA, UMLS, ICD ➞ DOID</li> <li>OMIM, ORPHA, UMLS, ICD ➞ HPO</li> </ul> Files <ul> <li> Downloaded Data <ul> <li>Disease/Phenotype-Gene Relations: <a href="https://www.disgenet.org/static/disgenet_ap1/files/downloads/curated_gene_disease_associations.tsv.gz"><code>curated_gene_disease_associations.tsv.gz</code></a></li> <li>Disease Identifier Mapping: <a href="https://www.disgenet.org/static/disgenet_ap1/files/downloads/disease_mappings.tsv.gz"><code>disease_mappings.tsv.gz</code></a></li> </ul> </li> <li> Generated Mapping Data <ul> <li>Disease Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/PHENOTYPE_HPO_MAP.txt"><code>PHENOTPYE_HPO_MAP.txt</code></a></li> <li>Phenotype Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/DISEASE_MONDO_MAP.txt"><code>DISEASE_DOID_MAP.txt</code></a></li> </ul> </li> </ul>   Ensembl Homepage: <a href="https://uswest.ensembl.org/index.html"><code>https://uswest.ensembl.org/index.html</code></a> Citation: <blockquote> Zerbino DR, Achuthan P, Akanni W, Amode MR, Barrell D, Bhai J, Billis K, Cummins C, Gall A, Girón CG, Gil L. <a href="https://academic.oup.com/nar/article/46/D1/D754/4634002">Ensembl 2018</a>. Nucleic Acids Research. 2017;46(D1):D754-61 </blockquote> Usage: Ensembl data was utilized to create mappings between Ensembl genes, transcripts, and proteins with <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#national-center-for-biotechnology-information-gene">NCBI Gene identifiers</a>, <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#human-genome-organisation-gene-nomenclature-committee">HUGO gene symbols</a>, <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#universal-protein-resource-knowledgebase">UniProt Accession identifiers</a>, and <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#protein-ontology">Protein Ontology identifiers</a> in the knowledge graph (for additional details on the processing of these data, see <a href="https://github.com/callahantiff/PheKnowLator/blob/master/notebooks/Data_Preparation.ipynb"><code>Data_Preparation.ipynb</code></a>): <ul> <li>Ensembl Transcript IDs ➞ PRO IDs</li> <li>Gene Ensembl IDs ➞ Entrez Gene IDs</li> <li>Gene Ensembl IDs ➞ PRO IDs</li> <li>Gene Symbols ➞ Transcript Ensembl IDs</li> <li>Entrez Gene IDs ➞ Transcript Ensembl IDs</li> <li>Entrez Gene IDs ➞ PRO IDs</li> <li>Protein Ensembl IDs ➞ UniProt Protein Accession</li> <li>STRING IDs ➞ PRO IDs</li> <li>UniProt Protein Accession ➞ Entrez Gene IDs</li> </ul> Files <ul> <li> Downloaded Data <ul> <li><a><code>Homo_sapiens.GRCh38.102.gtf</code></a></li> <li><a><code>Homo_sapiens.GRCh38.102.uniprot.tsv.gz</code></a></li> <li><a><code>Homo_sapiens.GRCh38.102.entrez.tsv.gz</code></a></li> </ul> </li> <li> Generated Mapping Data <ul> <li>Cleaned Ensembl Gene Set: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ensembl_identifier_data_cleaned.txt"><code>ensembl_identifier_data_cleaned.txt</code></a></li> <li>Merged Gene, RNA, Protein Map: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/Merged_gene_rna_protein_identifiers.pkl"><code>Merged_gene_rna_protein_identifiers.pkl</code></a></li> <li>Ensembl Transcript-PRO Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ENSEMBL_TRANSCRIPT_PROTEIN_ONTOLOGY_MAP.txt"><code>ENSEMBL_TRANSCRIPT_PROTEIN_ONTOLOGY_MAP.txt</code></a></li> <li>Gene Symbol-Ensembl Transcript Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/GENE_SYMBOL_ENSEMBL_TRANSCRIPT_MAP.txt"><code>GENE_SYMBOL_ENSEMBL_TRANSCRIPT_MAP.txt</code></a></li> <li>Entrez Gene-Ensembl Transcript Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ENTREZ_GENE_ENSEMBL_TRANSCRIPT_MAP.txt"><code>ENTREZ_GENE_ENSEMBL_TRANSCRIPT_MAP.txt</code></a></li> <li>Entrez Gene-PRO Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ENTREZ_GENE_PRO_ONTOLOGY_MAP.txt"><code>ENTREZ_GENE_PRO_ONTOLOGY_MAP.txt</code></a></li> <li>Ensembl Gene-Entrez Gene Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ENSEMBL_GENE_ENTREZ_GENE_MAP.txt"><code>ENSEMBL_GENE_ENTREZ_GENE_MAP.txt</code></a></li> </ul> </li> </ul>   GeneMANIA Homepage: <a href="https://genemania.org/"><code>https://genemania.org/</code></a> Citation: <blockquote> Warde-Farley D, Donaldson SL, Comes O, Zuberi K, Badrawi R, Chao P, Franz M, Grouios C, Kazi F, Lopes CT, Maitland A. <a href="https://academic.oup.com/nar/article-abstract/38/suppl_2/W214/1126704">The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function</a>. Nucleic Acids Research. 2010;38(suppl_2):W214-20 </blockquote> Usage: GeneMANIA was utilized to create <code>gene-gene</code> edges. Files <ul> <li>Downloaded Data: <a href="http://genemania.org/data/current/Homo_sapiens.COMBINED/COMBINED.DEFAULT_NETWORKS.BP_COMBINING.txt"><code>COMBINED.DEFAULT_NETWORKS.BP_COMBINING.txt</code></a></li> </ul>   Genotype-Tissue Expression Project (GTEx) Homepage: <a href="https://gtexportal.org/home/"><code>https://gtexportal.org/home/</code></a> Citation: <blockquote> Lonsdale J, Thomas J, Salvatore M, Phillips R, Lo E, Shad S, Hasz R, Walters G, Garcia F, Young N, Foster B. <a href="http://www.nature.com/ng/journal/v45/n6/full/ng.2653.html">The genotype-tissue expression (GTEx) project</a>. Nature Genetics. 2013;45(6):580 </blockquote> Usage: The Genotype-Tissue Expression (GTEx) Project was utilized to create edges between <code>protein-cell</code>, <code>protein-anatomy</code>, <code>rna-cell</code> and <code>rna-anatomy</code> entities. The original data were filtered such that only those edges where the median TPM was >=<code>1.0</code> and genes were of any type other than protein-coding were included. It should also be noted that we chose to use the RNASeQC file over the RSEM file as advised by the GTEx website. <blockquote> The RSEM estimates are based on combining isoform-level estimates, which adds uncertainty to the resulting gene-level values (the isoform-level estimates are highly inaccurate in some cases). </blockquote> The file contains <code>54</code> unique tissue and/or cell types. GTEx provides mappings from tissue types to UBERON and EFO. These provided <a href="https://gtexportal.org/home/samplingSitePage">mappings</a> were verified and extended, such that all samples which referenced a cell type were also mapped to the Cell and the Cell Line ontologies. This resulted in a total of <code>56</code> mappings (<code>1.04</code> mappings/concepts). Files <ul> <li> Downloaded Data: <a href="https://storage.googleapis.com/gtex_analysis_v8/rna_seq_data/GTEx_Analysis_2017-06-05_v8_RNASeQCv1.1.9_gene_median_tpm.gct.gz"><code>GTEx_Analysis_2017-06-05_v8_RNASeQCv1.1.9_gene_median_tpm.gct</code></a> </li> <li> Mapping Results: <a href="https://storage.googleapis.com/pheknowlator/curated_data/zooma_tissue_cell_mapping_04JAN2020.xlsx"><code>zooma_tissue_cell_mapping_04JAN2020.xlsx</code></a> </li> <li> Generated Data The final mapping set was combined with terms from the <a href="https://www.proteinatlas.org/">Human Protein Atlas</a>, see <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources/t#human-protein-atlas">here</a> for more information. <ul> <li>All HPA tissue and cell type strings: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/HPA_tissues.txt"><code>HPA_tissues.txt</code></a></li> <li>Final Term Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/HPA_GTEx_TISSUE_CELL_MAP.txt"><code>HPA_GTEx_TISSUE_CELL_MAP.txt</code></a></li> <li>Final RNA, Gene, Protein-Tissues and Cell Types Relations: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/HPA_GTEX_RNA_GENE_PROTEIN_EDGES.txt"><code>HPA_GTEX_RNA_GENE_PROTEIN_EDGES.txt</code></a></li> </ul> </li> </ul>   Human Genome Organisation Gene Nomenclature Committee (HUGO) Homepage: <a href="https://www.genenames.org/"><code>https://www.genenames.org/</code></a> Citations: <blockquote> HGNC Database, HUGO Gene Nomenclature Committee (HGNC), European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom <a href="https://www.genenames.org/">www.genenames.org</a> Yates B, Braschi B, Gray K, Seal R, Tweedie S, Bruford E. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210531/">Genenames.org: the HGNC and VGNC Resources in 2017</a>. Nucleic Acids Research. 2017;45(D1):D619-625 </blockquote> Usage: The Human Genome Organisation (HUGO) data was utilized to obtain mappings between <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#national-center-for-biotechnology-information-gene">NCBI Gene identifiers</a>, HUGO gene symbols, <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#universal-protein-resource-knowledgebase">UniProt Accession identifiers</a>, and <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#protein-ontology">Protein Ontology identifiers</a>. For additional details on the processing of these data, see <a href="https://github.com/callahantiff/PheKnowLator/blob/master/notebooks/Data_Preparation.ipynb"><code>Data_Preparation.ipynb</code></a>: <ul> <li>Ensembl Transcript IDs ➞ PRO IDs</li> <li>Gene Ensembl IDs ➞ Entrez Gene IDs</li> <li>Gene Ensembl IDs ➞ PRO IDs</li> <li>Gene Symbols ➞ Transcript Ensembl IDs</li> <li>Entrez Gene IDs ➞ Transcript Ensembl IDs</li> <li>Entrez Gene IDs ➞ PRO IDs</li> <li>Protein Ensembl IDs ➞ UniProt Protein Accession</li> <li>STRING IDs ➞ PRO IDs</li> <li>UniProt Protein Accession ➞ Entrez Gene IDs</li> </ul> Files <ul> <li> Downloaded Data: <a href="http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/tsv/hgnc_complete_set.txt"><code>hgnc_complete_set.txt</code></a> </li> <li> Generated Data <ul> <li>Merged Gene, RNA, Protein Map: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/Merged_gene_rna_protein_identifiers.pkl"><code>Merged_gene_rna_protein_identifiers.pkl</code></a></li> <li>Gene Symbol-Ensembl Transcript Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/GENE_SYMBOL_ENSEMBL_TRANSCRIPT_MAP.txt"><code>GENE_SYMBOL_ENSEMBL_TRANSCRIPT_MAP.txt</code></a></li> </ul> </li> </ul>   Human Protein Atlas (HPA) Homepage: <a href="https://www.proteinatlas.org/"><code>https://www.proteinatlas.org/</code></a> Citation: <blockquote> Uhlén M, Fagerberg L, Hallström BM, Lindskog C, Oksvold P, Mardinoglu A, Sivertsson Å, Kampf C, Sjöstedt E, Asplund A, Olsson I. <a href="https://science.sciencemag.org/content/347/6220/1260419.short">Tissue-based map of the human proteome</a>. Science. 2015;347(6220):1260419 </blockquote> Usage: The Human Protein Atlas (HPA) was utilized to create <code>rna-cell</code>, <code>rna-anatomy</code>, <code>protein-cell</code>, and <code>protein-anatomy</code> edges. Evidence between gene and RNA expression in specific tissue types was derived by HPA, such that the <a href="https://www.proteinatlas.org/about/assays+annotation#normalization_rna">consensus normalized expression</a> was >=<code>1.0</code>. Zooma was utilized to automatically annotate the <code>153</code> unique tissues and cell types from Human Protein Atlas for all human protein-coding genes in the <a href="https://www.proteinatlas.org/humanproteome">Human Proteome</a> to the Cell Ontology, Cell Line Ontology, and the Uber-Anatomy Ontology. To best represent each concept, the automatic mappings from Zooma were extend through manual mapping efforts to ensure each concept cell type was matched to a Cell Ontology, Cell Line Ontology, and UBERON ontology term. This resulted in a total of <code>281</code> mappings (<code>1.84</code> mappings/concepts). Files <ul> <li> Downloaded Data: <a href="https://www.proteinatlas.org/api/search_download.php?search=&columns=g,eg,up,pe,rnatsm,rnaclsm,rnacasm,rnabrsm,rnabcsm,rnablsm,scl,t_RNA_adipose_tissue,t_RNA_adrenal_gland,t_RNA_amygdala,t_RNA_appendix,t_RNA_basal_ganglia,t_RNA_bone_marrow,t_RNA_breast,t_RNA_cerebellum,t_RNA_cerebral_cortex,t_RNA_cervix,_uterine,t_RNA_colon,t_RNA_corpus_callosum,t_RNA_ductus_deferens,t_RNA_duodenum,t_RNA_endometrium_1,t_RNA_epididymis,t_RNA_esophagus,t_RNA_fallopian_tube,t_RNA_gallbladder,t_RNA_heart_muscle,t_RNA_hippocampal_formation,t_RNA_hypothalamus,t_RNA_kidney,t_RNA_liver,t_RNA_lung,t_RNA_lymph_node,t_RNA_midbrain,t_RNA_olfactory_region,t_RNA_ovary,t_RNA_pancreas,t_RNA_parathyroid_gland,t_RNA_pituitary_gland,t_RNA_placenta,t_RNA_pons_and_medulla,t_RNA_prostate,t_RNA_rectum,t_RNA_retina,t_RNA_salivary_gland,t_RNA_seminal_vesicle,t_RNA_skeletal_muscle,t_RNA_skin_1,t_RNA_small_intestine,t_RNA_smooth_muscle,t_RNA_spinal_cord,t_RNA_spleen,t_RNA_stomach_1,t_RNA_testis,t_RNA_thalamus,t_RNA_thymus,t_RNA_thyroid_gland,t_RNA_tongue,t_RNA_tonsil,t_RNA_urinary_bladder,t_RNA_vagina,t_RNA_B-cells,t_RNA_dendritic_cells,t_RNA_granulocytes,t_RNA_monocytes,t_RNA_NK-cells,t_RNA_T-cells,t_RNA_total_PBMC,cell_RNA_A-431,cell_RNA_A549,cell_RNA_AF22,cell_RNA_AN3-CA,cell_RNA_ASC_diff,cell_RNA_ASC_TERT1,cell_RNA_BEWO,cell_RNA_BJ,cell_RNA_BJ_hTERT+,cell_RNA_BJ_hTERT+_SV40_Large_T+,cell_RNA_BJ_hTERT+_SV40_Large_T+_RasG12V,cell_RNA_CACO-2,cell_RNA_CAPAN-2,cell_RNA_Daudi,cell_RNA_EFO-21,cell_RNA_fHDF/TERT166,cell_RNA_HaCaT,cell_RNA_HAP1,cell_RNA_HBEC3-KT,cell_RNA_HBF_TERT88,cell_RNA_HDLM-2,cell_RNA_HEK_293,cell_RNA_HEL,cell_RNA_HeLa,cell_RNA_Hep_G2,cell_RNA_HHSteC,cell_RNA_HL-60,cell_RNA_HMC-1,cell_RNA_HSkMC,cell_RNA_hTCEpi,cell_RNA_hTEC/SVTERT24-B,cell_RNA_hTERT-HME1,cell_RNA_HUVEC_TERT2,cell_RNA_K-562,cell_RNA_Karpas-707,cell_RNA_LHCN-M2,cell_RNA_MCF7,cell_RNA_MOLT-4,cell_RNA_NB-4,cell_RNA_NTERA-2,cell_RNA_PC-3,cell_RNA_REH,cell_RNA_RH-30,cell_RNA_RPMI-8226,cell_RNA_RPTEC_TERT1,cell_RNA_RT4,cell_RNA_SCLC-21H,cell_RNA_SH-SY5Y,cell_RNA_SiHa,cell_RNA_SK-BR-3,cell_RNA_SK-MEL-30,cell_RNA_T-47d,cell_RNA_THP-1,cell_RNA_TIME,cell_RNA_U-138_MG,cell_RNA_U-2_OS,cell_RNA_U-2197,cell_RNA_U-251_MG,cell_RNA_U-266/70,cell_RNA_U-266/84,cell_RNA_U-698,cell_RNA_U-87_MG,cell_RNA_U-937,cell_RNA_WM-115,blood_RNA_basophil,blood_RNA_classical_monocyte,blood_RNA_eosinophil,blood_RNA_gdT-cell,blood_RNA_intermediate_monocyte,blood_RNA_MAIT_T-cell,blood_RNA_memory_B-cell,blood_RNA_memory_CD4_T-cell,blood_RNA_memory_CD8_T-cell,blood_RNA_myeloid_DC,blood_RNA_naive_B-cell,blood_RNA_naive_CD4_T-cell,blood_RNA_naive_CD8_T-cell,blood_RNA_neutrophil,blood_RNA_NK-cell,blood_RNA_non-classical_monocyte,blood_RNA_plasmacytoid_DC,blood_RNA_T-reg,blood_RNA_total_PBMC,brain_RNA_amygdala,brain_RNA_basal_ganglia,brain_RNA_cerebellum,brain_RNA_cerebral_cortex,brain_RNA_hippocampal_formation,brain_RNA_hypothalamus,brain_RNA_midbrain,brain_RNA_olfactory_region,brain_RNA_pons_and_medulla,brain_RNA_thalamus&format=tsv"><code>proteinatlas_search.tsv</code></a> </li> <li> Mapping Results: <a href="https://storage.googleapis.com/pheknowlator/curated_data/zooma_tissue_cell_mapping_04JAN2020.xlsx"><code>zooma_tissue_cell_mapping_04JAN2020.xlsx</code></a> </li> <li> Generated Data <ul> <li>Final Term Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/HPA_GTEx_TISSUE_CELL_MAP.txt"><code>HPA_GTEx_TISSUE_CELL_MAP.txt</code></a></li> <li>Final RNA, Gene, Protein-Tissues and Cell Types Relations: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/HPA_GTEX_RNA_GENE_PROTEIN_EDGES.txt"><code>HPA_GTEX_RNA_GENE_PROTEIN_EDGES.txt</code></a></li> </ul> </li> </ul>   National Center for Biotechnology Information (NCBI) Entrez Gene Homepage: <a href="https://www.ncbi.nlm.nih.gov/gene/"><code>https://www.ncbi.nlm.nih.gov/gene/</code></a> Citation: <blockquote> Maglott D, Ostell J, Pruitt KD, Tatusova T. <a href="https://academic.oup.com/nar/article-abstract/33/suppl_1/D54/2505255">Entrez Gene: gene-centered information at NCBI</a>. Nucleic Acids Research. 2005;33(suppl_1):D54-8. </blockquote> Usage: The National Center for Biotechnology Information (NCBI) Gene data was utilized to obtain mappings between <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#ncbi-gene">NCBI Gene identifiers</a>, <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#hugo-gene-nomenclature-committee">HUGO gene symbols</a>, <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#uniprot-knowledgebase">UniProt Accession identifiers</a>, and <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#protein-ontology">Protein Ontology identifiers</a>. For additional details on the processing of these data, see <a href="https://github.com/callahantiff/PheKnowLator/blob/master/notebooks/Data_Preparation.ipynb"><code>Data_Preparation.ipynb</code></a>: <ul> <li>Ensembl Transcript IDs ➞ PRO IDs</li> <li>Gene Ensembl IDs ➞ Entrez Gene IDs</li> <li>Gene Ensembl IDs ➞ PRO IDs</li> <li>Gene Symbols ➞ Transcript Ensembl IDs</li> <li>Entrez Gene IDs ➞ Transcript Ensembl IDs</li> <li>Entrez Gene IDs ➞ PRO IDs</li> <li>Protein Ensembl IDs ➞ UniProt Protein Accession</li> <li>STRING IDs ➞ PRO IDs</li> <li>UniProt Protein Accession ➞ Entrez Gene IDs</li> </ul> Files <ul> <li> Downloaded Data: <a href="https://ftp.ncbi.nih.gov/gene/DATA/GENE_INFO/Mammalia/Homo_sapiens.gene_info.gz"><code>Homo_sapiens.gene_info.gz</code></a> </li> <li> Generated Data <ul> <li>Merged Gene, RNA, Protein Map: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/Merged_gene_rna_protein_identifiers.pkl"><code>Merged_gene_rna_protein_identifiers.pkl</code></a></li> <li>Entrez Gene-Ensembl Transcript Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ENTREZ_GENE_ENSEMBL_TRANSCRIPT_MAP.txt"><code>ENTREZ_GENE_ENSEMBL_TRANSCRIPT_MAP.txt</code></a></li> <li>Entrez Gene-PRO Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ENTREZ_GENE_PRO_ONTOLOGY_MAP.txt"><code>ENTREZ_GENE_PRO_ONTOLOGY_MAP.txt</code></a></li> <li>Ensembl Gene-Entrez Gene Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/ENSEMBL_GENE_ENTREZ_GENE_MAP.txt"><code>ENSEMBL_GENE_ENTREZ_GENE_MAP.txt</code></a></li> <li>Uniprot Accession-Entrez Gene Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/UNIPROT_ACCESSION_ENTREZ_GENE_MAP.txt"><code>UNIPROT_ACCESSION_ENTREZ_GENE_MAP.txt</code></a></li> </ul> </li> </ul>   Reactome Pathway Database Homepage: <a href="https://reactome.org/"><code>https://reactome.org/</code></a> Citation: <blockquote> Fabregat A, Jupe S, Matthews L, Sidiropoulos K, Gillespie M, Garapati P, Haw R, Jassal B, Korninger F, May B, Milacic M. <a href="https://academic.oup.com/nar/article-abstract/46/D1/D649/4626770">The reactome pathway knowledgebase</a>. Nucleic Acids Research. 2017;46(D1):D649-55 </blockquote> Usage: The Reactome Database was utilized to create <code>chemical-pathway</code>, <code>GO Biological process-pathway</code>, <code>pathway-GO Cellular component</code>, <code>GO Molecular function-pathway</code>, and <code>protein-pathway</code> edges. The original data is filtered such that only records meeting the following criteria were included: <ul> <li><code>chemical-pathway</code>: column[5] == "Homo sapiens"</li> <li><code>GO Biological process-pathway</code>: column[5] startswith "REACTOME", column[8] == "P", and column[12] == "taxon:9606"</li> <li><code>pathway-GO Cellular component</code>: column[5] startswith "REACTOME", column[8] == "C", and column[12] == "taxon:9606"</li> <li><code>GO Molecular function-pathway</code>: column[5] startswith "REACTOME", column[8] == "F", and column[12] == "taxon:9606"</li> <li><code>protein-pathway</code>: column[5] == "Homo sapiens"</li> </ul> Files <ul> <li>Downloaded Data <ul> <li>Chemical-Pathway Relations: <a href="https://reactome.org/download/current/ChEBI2Reactome_All_Levels.txt"><code>ChEBI2Reactome_All_Levels.txt</code></a></li> <li>Pathway-GO Relations: <a href="https://reactome.org/download/current/gene_association.reactome"><code>gene_association.reactome</code></a></li> <li>Protein-Pathway Relations: <a href="https://reactome.org/download/current/UniProt2Reactome_All_Levels.txt"><code>UniProt2Reactome_All_Levels.txt</code></a></li> </ul> </li> </ul>   Search Tool for Recurring Instances of Neighbouring Genes (STRING) Database Homepage: <a href="https://string-db.org/"><code>string-db.org</code></a> Citation: <blockquote> Szklarczyk D, Gable AL, Lyon D, Junge A, Wyder S, Huerta-Cepas J, Simonovic M, Doncheva NT, Morris JH, Bork P, Jensen LJ. <a href="https://academic.oup.com/nar/article-abstract/47/D1/D607/5198476">STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets</a>. Nucleic Acids Research. 2018;47(D1):D607-13 </blockquote> Usage: The Search Tool for Recurring Instances of Neighbouring Genes (STRING) Database was utilized to create <code>protein-protein</code> edges. The original data is filtered such that only records meeting the following criteria were included: <code>combined_score</code> >= "700" (>90th percentile). Files <ul> <li> Downloaded Data: <a href="https://stringdb-static.org/download/protein.links.v11.0/9606.protein.links.v11.0.txt.gz"><code>9606.protein.links.v11.0.txt.gz</code></a> </li> <li> Generated Data: STRING-PRO Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/STRING_PRO_ONTOLOGY_MAP.txt"><code>STRING_PRO_ONTOLOGY_MAP.txt</code></a> </li> </ul>   Universal Protein Resource (UniProt) Knowledgebase Homepage: <a href="https://www.uniprot.org/"><code>https://www.uniprot.org/</code></a> Citation: <blockquote> UniProt Consortium. <a href="https://academic.oup.com/nar/article-abstract/47/D1/D506/5160987">UniProt: a worldwide hub of protein knowledge</a>. Nucleic acids research. 2018;47(D1):D506-15 </blockquote> Usage: The Universal Protein Resource (UniProt) Knowledgebase was utilized to obtain <code>cofactor</code>/<code>catalyst</code>-<code>protein</code> and <code>protein-coding gene</code>-<code>protein</code> edges as well as mappings between <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#national-center-for-biotechnology-information-gene">NCBI Gene identifiers</a>, <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#human-genome-organisation-gene-nomenclature-committee">HUGO gene symbols</a>, <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#universal-protein-resource-knowledgebase">Universal Protein Resource (UniProt) Accession identifiers</a>, and <a href="https://github.com/callahantiff/PheKnowLator/wiki/v2-Data-Sources#protein-ontology">Protein Ontology identifiers</a>. For additional details on the processing of these data, see <a href="https://github.com/callahantiff/PheKnowLator/blob/master/notebooks/Data_Preparation.ipynb"><code>Data_Preparation.ipynb</code></a>: <ul> <li>Ensembl Transcript IDs ➞ PRO IDs</li> <li>Gene Ensembl IDs ➞ Entrez Gene IDs</li> <li>Gene Ensembl IDs ➞ PRO IDs</li> <li>Gene Symbols ➞ Transcript Ensembl IDs</li> <li>Entrez Gene IDs ➞ Transcript Ensembl IDs</li> <li>Entrez Gene IDs ➞ PRO IDs</li> <li>Protein Ensembl IDs ➞ UniProt Protein Accession</li> <li>STRING IDs ➞ PRO IDs</li> <li>UniProt Protein Accession ➞ Entrez Gene IDs</li> </ul> Files <ul> <li> Downloaded Data <ul> <li>Cofactor and Catalyst relations: <a href="https://www.uniprot.org/uniprot/?query=&fil=organism%3A%22Homo%20sapiens%20(Human)%20%5B9606%5D%22&columns=id%2Centry%20name%2Creviewed%2Cdatabase(PRO)%2Cchebi(Cofactor)%2Cchebi(Catalytic%20activity)"><code>Cofactor/Catalyst Query Results</code></a></li> <li>UniProt Identifier Mapping: <a href="https://www.uniprot.org/uniprot/?query=&fil=organism%3A%22Homo%20sapiens%20(Human)%20%5B9606%5D%22&columns=id%2Cdatabase(GeneID)%2Cdatabase(Ensembl)%2Cdatabase(HGNC)%2Cgenes(PREFERRED)%2Cgenes(ALTERNATIVE)"><code>UniProt Identifier Query Results</code></a></li> </ul> </li> <li> Generated Data <ul> <li>Merged Gene, RNA, Protein Map: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/Merged_gene_rna_protein_identifiers.pkl"><code>Merged_gene_rna_protein_identifiers.pkl</code></a></li> <li>Protein-Cofactor Relations: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/UNIPROT_PROTEIN_COFACTOR.txt"><code>UNIPROT_PROTEIN_COFACTOR.txt</code></a></li> <li>Protein-Catalyst Relations: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/UNIPROT_PROTEIN_CATALYST.txt"><code>UNIPROT_PROTEIN_CATALYST.txt</code></a></li> <li>UniProt Accession-PRO Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/UNIPROT_ACCESSION_PRO_ONTOLOGY_MAP.txt"><code>UNIPROT_ACCESSION_PRO_ONTOLOGY_MAP.txt</code></a></li> <li>UniProt Accession-Entrez Gene Identifier Mapping: <a href="https://storage.googleapis.com/pheknowlator/current_build/data/processed_data/UNIPROT_ACCESSION_ENTREZ_GENE_MAP.txt"><code>UNIPROT_ACCESSION_ENTREZ_GENE_MAP.txt</code></a></li> </ul> </li> </ul>   This project is licensed under Apache License 2.0 - see the <a href="https://github.com/callahantiff/PheKnowLator/blob/master/LICENSE"><code>LICENSE.md</code></a> file for details. If you intend to use any of the information on this Wiki, please provide the appropriate attribution by citing this repository: <pre><code>@misc{callahan_tj_2019_3401437, author = {Callahan, TJ}, title = {PheKnowLator}, month = mar, year = 2019, doi = {10.5281/zenodo.3401437}, url = {https://doi.org/10.5281/zenodo.3401437} }</code></pre>

opencc-by-4.0Apr 2021View details →

zenodo44/100

Elk hair trace minerals and treponeme-associated hoof disease surveillance metadata in the US Pacific Northwest

This is the publicly accessible dataset reporting concentrations of thirteen analyzed minerals from hair using inductively coupled plasma mass spectrometry and relevant metadata from treponeme-associated hoof disease in Pacific Northwest elk. The data presented here were analyzed for the manuscript entitled "Associations between hair trace mineral concentrations and the occurrence of treponeme-associated hoof disease in elk (Cervus canadensis)." Please note that reported mineral concentrations are in their adjusted values and raw forms represented by the column name having ".Raw", (e.g., "Selenium" versus "Selenium.Raw"). Elk ecotype is represented by a four letter abbreviation for either Roosevelt (ROOS) or Rocky Mountain (ROMO). Unknown values for some variables (e.g., age class, county) are denoted with a "U."

opencc-by-4.0Aug 2022View details →

zenodo44/100

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

Summary-level GWAS data for 53 traits generated by <a href="https://www.genomicsplc.com/">Genomics plc</a> as presented in: Thompson D. et al. UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits (<a href="https://doi.org/10.1101/2022.06.16.22276246">https://doi.org/10.1101/2022.06.16.22276246</a>) If you have any questions or comments regarding these files, please contact Genomics plc at <a href="mailto:research@genomicsplc.com">research@genomicsplc.com</a> NOTES These analyses were carried out using the full UK Biobank (UKB) imputation data release (v3b). After removal of exclusions and withdrawals, a subset of 337,151 UKB individuals, the White British Unrelated (WBU) subgroup, was defined as the intersection of two sample groups created by Bycroft et al 2018 (Nature 562, 203-209): the ‘White British ancestry’ group (UKB Data Field 22006) and the ‘used in genetic principal components’ group (UKB Data Field 22020), the latter being high quality samples that were filtered to avoid closely related individuals. All GWAS analyses were performed on the WBU subgroup. Phenotypes were defined as described in Supplementary Table 1 ‘Phenotype definitions’ using a combination of Hospital Episode Statistics, Cancer Registry reports (where applicable) and self-report responses, with the exception of coronary artery disease (CAD). GWAS data was generated for both a “narrow” and a “broad” definition of CAD. The former was used as part of the training data for the Enhanced CAD PRS, the latter was used as part of the training data for the Enhanced CVD PRS. The phenotype definitions for “narrow” and a “broad” CAD are as follows: <table> <tbody> <tr> <td>Narrow CAD (includes angina)</td> <td>ICD10 codes (where .X indicates all subcodes) from both hospital and death records: I21, I22, I23, I24.1, I25.2, I20.X. ICD9 codes: 410-412, 42979, 413.X. OPCS-4 codes (K40.1–40.4, K41.1–41.4, K45.1–45.5,K49.1–49.2, K49.8–49.9, K50.2, K75.1–75.4, K75.8–75.9), self-reported heart attack (UKB codes 1075 in field 20002; code 1 in field 6150), self-reported coronary angioplasty (ptca) or coronary artery bypass graft (UKB codes 1070 and 1095  in field 20004), self-reported angina.</td> </tr> <tr> <td>Broad CAD (includes angina and all ischaemic heart disease)</td> <td>As for Narrow CAD, plus ICD10 codes I24.X, I25X, and ICD9 codes 414.X (where .X indicates all subcodes).</td> </tr> </tbody> </table> Note that there is no GWAS for cardiovascular disease (CVD) per se. This is because the UKB training data for the Enhanced CVD PRS consisted of separate GWASs for “narrow” CAD and ischaemic stroke. All analyses included Age at assessment, sex (for non-sex specific traits), genotyping chip, and 10 principal components as covariates. GWAS summary statistics for each trait were generated by applying PLINK 2.0 to the WBU subgroup, using a logistic regression for disease traits, and a linear regression model for quantitative traits. For chromosome X variants males were treated as having 0 or 2 alternative alleles. The results are not adjusted for genomic control. DATA FILE CONTENT DESCRIPTION (DISEASE TRAITS) <table> <tbody> <tr> <td>cpra</td> <td>Variant ID in ‘CPRA’ format. Position reflects position in b37</td> </tr> <tr> <td>chrom</td> <td>Chromosome</td> </tr> <tr> <td>pos</td> <td>Position in base pairs (b37, 1-based)</td> </tr> <tr> <td>alt</td> <td>Alternative allele (effect allele)</td> </tr> <tr> <td>beta</td> <td>Effect size (log odds ratio)</td> </tr> <tr> <td>standard_error</td> <td>Standard error of beta</td> </tr> <tr> <td>minus_log10_p</td> <td>Minus log(base 10) of P-value</td> </tr> <tr> <td>ref</td> <td>Reference allele (non-effect allele)</td> </tr> <tr> <td>ncase</td> <td>Number of cases</td> </tr> <tr> <td>ncontrol</td> <td>Number of controls</td> </tr> </tbody> </table> DATA FILE CONTENT DESCRIPTION (QUANTITATIVE TRAITS) <table> <tbody> <tr> <td>cpra</td> <td>Variant ID in ‘CPRA’ format. Position reflects position in b37</td> </tr> <tr> <td>chrom</td> <td>Chromosome</td> </tr> <tr> <td>pos</td> <td>Position in base pairs (b37, 1-based)</td> </tr> <tr> <td>alt</td> <td>Alternative allele (effect allele)</td> </tr> <tr> <td>beta</td> <td>Effect size</td> </tr> <tr> <td>standard_error</td> <td>Standard error of beta</td> </tr> <tr> <td>minus_log10_p</td> <td>Minus log(base 10) of P-value</td> </tr> <tr> <td>ref</td> <td>Reference allele (non-effect allele)</td> </tr> <tr> <td>ntotal</td> <td>Total sample size</td> </tr> </tbody> </table> FILE NAMES The following is a list of traits and their corresponding file names. DISEASE TRAITS <table> <tbody> <tr> <td>Age-related macular degeneration</td> <td>amd_strict_UKB_WBU.csv.gz</td> </tr> <tr> <td>Alzheimer's disease</td> <td>alzheimers_disease_UKB_WBU.csv.gz</td> </tr> <tr> <td>Asthma</td> <td>asthma_UKB_WBU.csv.gz</td> </tr> <tr> <td>Atrial fibrillation</td> <td>atrial_fibrillation_UKB_WBU.csv.gz</td> </tr> <tr> <td>Bipolar disorder</td> <td>bipolar_disorder_UKB_WBU.csv.gz</td> </tr> <tr> <td>Bowel cancer</td> <td>CRC_UKB_WBU.csv.gz</td> </tr> <tr> <td>Breast cancer</td> <td>BC_UKB_WBU_women.csv.gz</td> </tr> <tr> <td>Coeliac disease</td> <td>celiac_disease_UKB_WBU.csv.gz</td> </tr> <tr> <td>Narrow coronary artery disease</td> <td>NARROW_CAD_UKB_WBU.csv.gz</td> </tr> <tr> <td>Broad coronary artery disease</td> <td>BROAD_CAD_UKB_WBU.csv.gz</td> </tr> <tr> <td>Crohn's disease</td> <td>crohns_disease_UKB_WBU.csv.gz</td> </tr> <tr> <td>Epithelial ovarian cancer</td> <td>OC_UKB_WBU.csv.gz</td> </tr> <tr> <td>Hypertension</td> <td>HT_UKB_WBU.csv.gz</td> </tr> <tr> <td>Ischaemic stroke</td> <td>IS_stroke_UKB_WBU.csv.gz</td> </tr> <tr> <td>Melanoma</td> <td>melanoma_UKB_WBU.csv.gz</td> </tr> <tr> <td>Multiple sclerosis</td> <td>multiple_sclerosis_UKB_WBU.csv.gz</td> </tr> <tr> <td>Osteoporosis</td> <td>OP_WBU_training.csv.gz</td> </tr> <tr> <td>Prostate cancer</td> <td>PC_UKB_WBU.csv.gz</td> </tr> <tr> <td>Parkinson's disease</td> <td>parkinsons_disease_UKB_WBU.csv.gz</td> </tr> <tr> <td>Primary open angle glaucoma</td> <td>POAG_WBU_training.csv.gz</td> </tr> <tr> <td>Psoriasis</td> <td>psoriasis_UKB_WBU.csv.gz</td> </tr> <tr> <td>Rheumatoid arthritis</td> <td>rheumatoid_arthritis_UKB_WBU.csv.gz</td> </tr> <tr> <td>Schizophrenia</td> <td>schizophrenia_UKB_WBU.csv.gz</td> </tr> <tr> <td>Systemic lupus erythematosus</td> <td>lupus_UKB_WBU.csv.gz</td> </tr> <tr> <td>Type 1 diabetes</td> <td>t1d_UKB_WBU.csv.gz</td> </tr> <tr> <td>Type 2 diabetes</td> <td>T2D_UKB_WBU.csv.gz</td> </tr> <tr> <td>Ulcerative colitis</td> <td>ulcerative_colitis_UKB_WBU.csv.gz</td> </tr> <tr> <td>Venous thromboembolic disease</td> <td>VTE_UKB_WBU.csv.gz</td> </tr> </tbody> </table> QUANTITATIVE TRAITS <table> <tbody> <tr> <td>Age at menopause</td> <td>age_at_menopause_UKB_WBU.csv.gz</td> </tr> <tr> <td>Apolipoprotein A1</td> <td>apolipoprotein_a1_UKB_WBU.csv.gz</td> </tr> <tr> <td>Apolipoprotein B</td> <td>apolipoprotein_b_UKB_WBU.csv.gz</td> </tr> <tr> <td>Body mass index</td> <td>bmi_UKB_WBU.csv.gz</td> </tr> <tr> <td>Calcium</td> <td>calcium_UKB_WBU.csv.gz</td> </tr> <tr> <td>Docosahexaenoic acid</td> <td>docosahexaenoic_acid_UKB_WBU.csv.gz</td> </tr> <tr> <td>Estimated bone mineral density T-score</td> <td>BMD_WBU_training.csv.gz</td> </tr> <tr> <td>Estimated glomerular filtration rate (creatinine based)</td> <td>egfr_UKB_WBU.csv.gz</td> </tr> <tr> <td>Estimated glomerular filtration rate (cystatin based)</td> <td>egfr_cys_UKB_WBU.csv.gz</td> </tr> <tr> <td>Glycated haemoglobin</td> <td>hba1c_UKB_WBU_nodiabetes.csv.gz</td> </tr> <tr> <td>High density lipoprotein cholesterol</td> <td>hdl_cholesterol_UKB_WBU.csv.gz</td> </tr> <tr> <td>Height</td> <td>height_UKB_WBU.csv.gz</td> </tr> <tr> <td>Intraocular pressure</td> <td>iop_WBU_training.csv.gz</td> </tr> <tr> <td>Low density lipoprotein cholesterol</td> <td>ldl_UKB_WBU_nostatins.csv.gz</td> </tr> <tr> <td>Omega-6 fatty acids</td> <td>omega_6_fatty_acids_UKB_WBU.csv.gz</td> </tr> <tr> <td>Omega-3 fatty acids</td> <td>omega_3_fatty_acids_UKB_WBU.csv.gz</td> </tr> <tr> <td>Phosphatidylcholines</td> <td>phosphatidylcholines_UKB_WBU.csv.gz</td> </tr> <tr> <td>Phosphoglycerides</td> <td>phosphoglycerides_UKB_WBU.csv.gz</td> </tr> <tr> <td>Polyunsaturated fatty acids</td> <td>polyunsaturated_fatty_acids_UKB_WBU.csv.gz</td> </tr> <tr> <td>Resting heart rate</td> <td>resting_heart_rate_UKB_WBU.csv.gz</td> </tr> <tr> <td>Remnant cholesterol (Non-HDL, Non-LDL cholesterol)</td> <td>remnant_cholesterol__UKB_WBU.csv.gz</td> </tr> <tr> <td>Sphingomyelins</td> <td>sphingomyelins_UKB_WBU.csv.gz</td> </tr> <tr> <td>Total cholesterol</td> <td>total_cholesterol_UKB_WBU.csv.gz</td> </tr> <tr> <td>Total fatty acids</td> <td>total_fatty_acids_UKB_WBU.csv.gz</td> </tr> <tr> <td>Total triglycerides</td> <td>total_triglycerides_UKB_WBU.csv.gz</td> </tr> </tbody> </table>

opencc-by-4.0Jun 2022View details →

zenodo44/100

SFB1451 - key mechanisms of motor control in health and disease

Note: this dataset has been deprecated in favour of <a href="https://github.com/sfb1451/all-datasets" target="_blank" rel="noopener">sfb1451/all-datasets</a>; see <a href="https://doi.org/10.5281/zenodo.11119424">10.5281/zenodo.11119424</a> This dataset indexes projects of the Collaborative Research Centre 1451 (CRC1451; dt: Sonderforschungsbereich, SFB1451). This collaborative research centre brings together neuroscientists investigating genetic factors, cellular, and synaptic as well as systems/neural network processes underlying motor control in animals and humans, in both health and neuropsychiatric diseases. All investigators are committed to the CRC's multi-faceted, iterative, and integrative agenda with the long-term goal of identifying the essential mechanisms underlying normal and pathological motor control.

opencc-by-4.0Jan 2024View details →

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SFB1451 - key mechanisms of motor control in health and disease

This is a collection of datasets created within the Collaborative Research Center 1451. The "superdataset" contains information about datasets stored in various locations. This information can be used to obtain programmatic, fine-grained data access to the level of individual files, depending on the level of detail provided by dataset authors, storage location, and access restrictions. The Collaborative Research Center 1451 (CRC1451; dt: Sonderforschungsbereich, SFB1451) brings together neuroscientists investigating genetic factors, cellular, and synaptic as well as systems/neural network processes underlying motor control in animals and humans, in both health and neuropsychiatric diseases. All investigators are committed to the CRC's multi-faceted, iterative, and integrative agenda with the long-term goal of identifying the essential mechanisms underlying normal and pathological motor control.

opencc-by-4.0Jan 2024View details →

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COMPREHENSIVE LIVESTOCK HEALTH PROGRAM: TARGETED TREATMENT AND HOLISTIC INTERVENTIONS FOR MAJOR PREVALENT DISEASES IN THE LIVESTOCK FARMING COMMUNITY OF DAYNILE DISTRICT, MOGADISHU, SOMALIA.

The general objective of this project was to intervene with the most common livestock diseases in Dayniile district by carrying out a comprehensive campaign for treatment and control. The specific objectives consisted of a treatment campaign, improving infrastructure for establishing disinfectant foot dips and hand washing points, providing disinfectant tools, and finalising community engagement and education by doing training at the farm level. The team visited different donors and added their contribution. After collecting sufficient funds from various sources, the team began the procurement of the necessary materials. This included purchasing veterinary drugs and supplies from local pharmacies and other essentials like stationery. The first activity was treatment campaigns, which were a central aspect of the project. Over 290 animals were treated for various diseases and conditions. The farm manager was informed of the diagnoses, and upon receiving their permission, the appropriate treatments were administered. The second intervention action was a vaccination campaign. The team vaccinated a total of 70 animals against clostridial bacteria, which is one of the most common camel diseases encountered in the area. The third intervention was the establishment of biosecurity facilities at select livestock farms. Among all the farms involved in the project, five were chosen for the provision of enhanced biosecurity measures. These measures included the installation of foot dips and teat dips. The fourth activity was educating livestock farmers on strategies for controlling and preventing livestock diseases. The training was held at Beder Camel Dairy Farm and attended by approximately 10 individuals, comprising 3 females and 7 males. The content of the training was three modules: the first was general farm biosecurity, the second was operational biosecurity, and the third was concern for vaccination. Recommendation: We recommend that each farm hire livestock health specialists to easily implement disease prevention steps and promptly solve each new case.  We recommend the livestock association, veterinary clinics, and other institutions working on livestock do routine campaigns that facilitate the determination of prevalent diseases and the treatment of those cases

opencc-by-4.0May 2024View details →

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Dataset Natural plant disease suppressiveness in soils extends to insect pest control

This dataset is related to the study "Natural plant disease suppressiveness in soils extends to insect pest control" (Harmsen et al., 2024) and contains the raw data described therein.  Sequencing data used in this study has been deposited in the NCBI Sequence Read Archive under the BioProject number <a href="https://www.ncbi.nlm.nih.gov/bioproject/PRJNA1075215/">PRJNA1075215</a>. The scripts used to analyze the data generated in the study are available at <a href="https://github.com/nhrmsn/SuppressSoil-Data">GitHub</a>.

opencc-by-4.0May 2024View details →

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Weather-related Disease Prediction Dataset

This dataset integrates medical symptoms and weather conditions to facilitate research into the prediction of diseases influenced by meteorological factors. The data spans a range of weather parameters alongside reported medical symptoms from a sizable number of anonymized individuals.   Variables: Age: Age of the patient. Gender: Gender of the patient (encoded numerically). Temperature (C): Daily average temperature in Celsius. Humidity: Daily average humidity percentage. Wind Speed (km/h): Daily average wind speed in kilometers per hour. Symptoms: Various symptoms such as nausea, joint pain, abdominal pain, high fever, chills, fatigue, runny nose, pain behind the eyes, etc., encoded as binary values (1 for present, 0 for absent). Pre-existing Conditions: Conditions like asthma history, high cholesterol, diabetes, obesity, HIV/AIDS, nasal polyps, high blood pressure, encoded as binary values. Data Collection Method: The data was collected from anonymous medical records and corresponding local weather stations. All personal identifiers have been removed to ensure patient confidentiality and data privacy, adhering to ethical standards for medical data handling. Usage Notes: This dataset is intended for use in academic and research settings, especially in studies focused on the impact of weather on human health. It could be particularly useful for developing machine learning models to predict the likelihood of disease outbreaks based on weather patterns.

opencc-by-4.0May 2024View details →

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Functional Near-Infrared Spectroscopy Reveals Delayed Hemodynamic Changes in the Primary Motor Cortex During Fine Motor Tasks and Decreased Interhemispheric Connectivity in Parkinson's Disease Patients

This dataset contains functional near-infrared spectroscopy (fNIRS) data from 20 patients with Parkinson’s disease and 20 age- and sex-matched healthy subjects without movement disorders. There are 3 folders, each corresponding to a different task: a 10-second finger-tapping task, a 2-minute walking task, and a 6-minute resting-state. When using this dataset, please cite our work: <div> <div>Guevara, E., Rivas-Ruvalcaba, F. J., Kolosovas-Machuca, E. S., Ramírez-Elías, M., Zapata, R. D. de L., Ramirez-GarciaLuna, J. L., & Rodríguez-Leyva, I. (2024). Parkinson’s disease patients show delayed hemodynamic changes in primary motor cortex in fine motor tasks and decreased resting-state interhemispheric functional connectivity: A functional near-infrared spectroscopy study. Neurophotonics, 11(2), 025004. <a href="https://doi.org/10.1117/1.NPh.11.2.025004">https://doi.org/10.1117/1.NPh.11.2.025004</a></div> <div> <div> <div>Guevara, E., Solana-Lavalle, G., & Rosas-Romero, R. (2024). Integrating fNIRS and machine learning: Shedding light on Parkinson’s disease detection. EXCLI Journal, 23, 763–771. <a href="https://doi.org/10.17179/excli2024-7151">https://doi.org/10.17179/excli2024-7151</a></div> <div> <div> <div> <div> <div>Guevara, E., Kolosovas-Machuca, E. S., & Rodríguez-Leyva, I. (2024). Exploring motor cortex functional connectivity in Parkinson’s disease using fNIRS. Brain Organoid and Systems Neuroscience Journal, 2, 23–30. <a href="https://doi.org/10.1016/j.bosn.2024.04.001">https://doi.org/10.1016/j.bosn.2024.04.001</a></div> </div> </div> </div> </div> </div> </div> </div>

opencc-by-4.0May 2023View details →

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Online Appendix for PhD Thesis Titled "Dissecting Causal Relationships and Molecular Mechanisms in Disease using Genetic Risk Profiles"

This repository contains 23 tables and two figures, which are too big to be included in the Appendix section of my thesis document. The second version includes additional summary statistics of metabolite-PGS associations which can be found at http://mrcieu.mrsoftware.org/metabolites_PRS_atlas/.

opencc-by-4.0Nov 2023View details →

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M3-OCTA:Leveraging Multimodal Fusion for Enhanced Diagnosis of Multiple Retinal Diseases in Ultra-wide OCTA

Ultra-wide optical coherence tomography angiography (UW-OCTA) is an emerging imaging technique that offers significant advantages over traditional OCTA by providing an exceptionally wide scanning range of up to 24 x 20 mm^{2}, covering both the anterior and posterior regions of the retina. However, the currently accessible UW-OCTA datasets suffer from limited comprehensive hierarchical information and corresponding disease annotations. To address this limitation, we have curated the pioneering M3OCTA dataset, which is the first multimodal (i.e., multilayer), multi-disease, and widest field-of-view UW-OCTA dataset. Furthermore, the effective utilization of multi-layer ultra-wide ocular vasculature information from UW-OCTA remains underdeveloped. To tackle this challenge, we propose the first cross-modal fusion framework that leverages multi-modal information for diagnosing multiple diseases. Through extensive experiments conducted on our openly available M3OCTA dataset, we demonstrate the effectiveness and superior performance of our method, both in fixed and varying modalities settings. The construction of the M3OCTA dataset, the first multimodal OCTA dataset encompassing multiple diseases, aims to advance research in the ophthalmic image analysis community. Our proposed M3OCTA is the first multi-modal based ultra-wide retinal OCTA dataset, involving 1637 scans from 1046 eyes of 620 individuals imaged in Zigong First People’s Hospital through 24×20 scan mode. Specifically, 1067 scans contains choroid large vessel image; images of 1310 scans from 496 people are labeled as six classes in multi-label setting, including healthy, diabetic retinopathy (DR), diabetic macular edema (DME), Retinal Vein Occlusion (RVO), Hypertension (HBP) and Vitreous Hemorrhage (VH), and then split into train, validation and test set as 6:2:2. The remaining unlabeled data are only used in the pretraining step. Details of our M3OCTA and other public ones are listed in Table.1. Compared with others, M3OCTA dataset demonstrates superiorities in several aspects including the number of modalities, number of patients, image resolution, and FOV.   You can request this dataset through signing the attached agreement. The download link will send to you.

opencc-by-4.0Jun 2024View details →

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Interviews for New Business Models for Pharmaceutical Innovation and Access to Medicines - Rare Diseases

These supplementary materials represent the partial dataset in the form of semi-structured interviews, collected and analyzed in the research article "Alternative innovation models of pharmaceutical development for rare disease drugs: how (and) do they work?: A qualitative study". This article is one of the outcomes of the "New Business Models for Pharmaceutical Innovation and Global Access to Medicines" research project, conducted at the Global Health Center, within the Geneva Graduate Institute. The dataset contains 10/11 interviews collected and used in this article, which are published with the informed consent of the interviewees. Details about the research project can be found at: <a href="https://www.graduateinstitute.ch/NBM">https://www.graduateinstitute.ch/NBM</a>

opencc-by-4.0Jun 2024View details →

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Interstage single ventricle heart disease infants show dysregulation in multiple metabolic pathways: targeted metabolomics analysis - Data

The data in this Zenodo entry corresponds to the data used to produce the results in <a href="https://www.jacc.org/doi/full/10.1016/j.jacadv.2022.100169">https://www.jacc.org/doi/full/10.1016/j.jacadv.2022.100169</a>. The zipped folder contains three files <ul> <li>Metabolite Data.csv - The meatobilte measurements for all the samples</li> <li>Clinical Data.csv - Values for the clinical variables</li> <li>Clinical Data Descriptions.csv - More in depth explanation of clinical variables as well as possible values of the variables</li> </ul> This study was supported by the American Heart Association (AHA20CDA35310498 and AHA18IPA34170070) and the National Institutes of Health (NIH/NCATS Colorado CTSA, No. UL1 TR001082 and NIH/NHLBI K23HL12363

opencc-by-4.0Jun 2024View details →

ScienceDex guides

Understand access before you commit

These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.

Compare curated datasets

Allen Brain Atlas

Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.

allen-brain-atlas

neuroscienceopenDocumentation, web resources, and API references are available online.

Last verified 2026-04-30Open record

Annotated Behaviour and Observability Dataset (ABODe)

ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.

abode-home-cage

behavioral-neuroscienceopenThe DataShare record exposes download links for annotations, documentation, license text, and the zipped per-snippet data directory.

Last verified 2026-04-30Open record

DANDI Archive for NWB datasets

DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.

dandi-nwb

electrophysiologyopenPublished Dandiset metadata and archive endpoints are available through the production DANDI API.

Last verified 2026-04-30Open record

International Brain Laboratory public data

The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.

ibl

behavioral-neuroscienceopenPublic sessions can be searched and loaded from the IBL public data server through ONE.

Last verified 2026-04-29Open record

OpenNeuro

OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.

openneuro

neuroscienceopenPublished datasets are available on demand over the internet.

Last verified 2026-04-29Open record

Find research datasets worth reusing

Dataset results

Ultrasensitive ctDNA detection for preoperative disease stratification in early-stage lung adenocarcinoma

Genome-wide association analyses identify novel Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

TBGA: A Large-Scale Gene-Disease Association Dataset for Biomedical Relation Extraction

CADD-SV - A framework to score the effects of structural variants in health and disease

Characterizing and explaining impact of disease-associated mutations in proteins without known structures or structural homologues

Principles of gait encoding in the subthalamic nucleus of people with Parkinson's disease

Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"

PheKnowLator Human Disease Knowledge Graphs - Build Data (Processed)

Elk hair trace minerals and treponeme-associated hoof disease surveillance metadata in the US Pacific Northwest

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

SFB1451 - key mechanisms of motor control in health and disease

SFB1451 - key mechanisms of motor control in health and disease

COMPREHENSIVE LIVESTOCK HEALTH PROGRAM: TARGETED TREATMENT AND HOLISTIC INTERVENTIONS FOR MAJOR PREVALENT DISEASES IN THE LIVESTOCK FARMING COMMUNITY OF DAYNILE DISTRICT, MOGADISHU, SOMALIA.

Dataset Natural plant disease suppressiveness in soils extends to insect pest control

Weather-related Disease Prediction Dataset

Functional Near-Infrared Spectroscopy Reveals Delayed Hemodynamic Changes in the Primary Motor Cortex During Fine Motor Tasks and Decreased Interhemispheric Connectivity in Parkinson's Disease Patients

Online Appendix for PhD Thesis Titled "Dissecting Causal Relationships and Molecular Mechanisms in Disease using Genetic Risk Profiles"

M3-OCTA:Leveraging Multimodal Fusion for Enhanced Diagnosis of Multiple Retinal Diseases in Ultra-wide OCTA

Interviews for New Business Models for Pharmaceutical Innovation and Access to Medicines - Rare Diseases

Interstage single ventricle heart disease infants show dysregulation in multiple metabolic pathways: targeted metabolomics analysis - Data

Understand access before you commit

Allen Brain Atlas

Annotated Behaviour and Observability Dataset (ABODe)

DANDI Archive for NWB datasets

International Brain Laboratory public data

OpenNeuro

Your academic CV and NIH biosketch