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211 results for “Genetic screens”
Genetically adjusted PSA levels for prostate cancer screening
<p>Prostate-specific antigen (PSA) screening for prostate cancer remains controversial because it increases overdiagnosis and overtreatment of clinically insignificant tumors. Accounting for genetic determinants of constitutive, non-cancer PSA variation has potential to improve screening utility. We discovered 128 genome-wide significant associations (<em>P</em><5×10<sup>-8</sup>) in a multi-ancestry GWAS meta-analysis of 95,768 men and developed a PSA polygenic score (PGS<sub>PSA</sub>) that explains 9.61% of constitutive PSA variation. Here we provide full GWAS summary statistics for the multi-ancestry meta-analysis and ancestry-stratified summary statistics for ~1.2 million variants used to derive a genome-wide PGS<sub>PSA.</sub></p>
Parallel reverse genetic screening in mutant human cells using transcriptomics - Data and analyses
<p>This dataset contains data files and analysis code associated with manuscript entitled "Parallel reverse genetic screening in mutant human cells using transcriptomics".</p> <p>Data files include expression profiles for over 1800 RNA-seq samples and annotations.</p> <p>Analysis files include R scripts to generate summary figures.</p>
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
ClinicalTrials.gov study NCT01016106. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
ClinicalTrials.gov study NCT00246857. IPD Sharing: NO. Countries: 2. Publications: 4.
The Prostate Cancer, Genetic Risk, and Equitable Screening Study (ProGRESS)
ClinicalTrials.gov study NCT05926102. IPD Sharing: YES. Countries: 1. Publications: 1.
Supplemental Data for "Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening"
<p>Data file accompanying: Haque IS, Lazarin GA, Kang HP, Evans EA, Goldberg JD, Wapner RJ. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. <em>JAMA. </em>2016;316(7):734-742. doi:10.1001/jama.2016.11139</p> <p>(SRC = self-reported racial/ethnic category; TG = targeted genotyping; NGS = next-generation sequencing)</p> <p>Data file includes:</p> <ul> <li><strong>Couple Data: </strong>Number of self-identified reproductive couples, separated by tandem or sequential screening status and by (mother SRC, father SRC)</li> <li><strong>Disease Severity</strong>: List of all diseases tested with severity rating as used in the manuscript.</li> <li><strong>Allele Data</strong>: Listing of all alleles considered pathogenic in manuscript's data analysis, with number of observations and number of tested chromosomes in each SRC.</li> <li><strong>Chromosome Frequencies</strong>: for each disease in each SRC: <ul> <li>Effective total chromosome count (effective sample size after integrating TG and NGS-only alleles).</li> <li>Beta posterior a,b: parameters a, b for the best-fit beta distribution approximating the probability that a random chromosome in this SRC carries a pathogenic allele (integrating both TG and NGS alleles).</li> <li># Chromosomes total/positive for TG alleles</li> <li># Chromosomes total/positive for NGS alleles</li> <li># Chromosomes total/positive for individuals tested by TG</li> <li># Chromosomes total/positive for individuals tested by NGS</li> </ul> </li> <li><strong>Disease Risks</strong>: for each disease in each pairing of SRCs <ul> <li>Father/Mother computed carrier frequency: probability that a random individual from father/mother's SRC is a carrier for the given disease</li> <li>Computed risk of affected conceptus (mean, 2.5, 97.5 percentiles): mean and CI of the posterior distribution over the probability that a random conceptus arising from the racial/ethnic pairing indicated would be homozygous or compound heterozygous for pathogenic alleles for the indicated disease.</li> <li>Computed carrier couple frequency: probability that a random couple from the given SRCs would be a carrier couple for the indicated disease (ie, that both members of the couple would be carriers for the indicated disease)</li> <li>Total couples: number of tandemly-tested couples of the indicated SRC pairing who both had the "routine carrier testing" indication for testing and were both tested for the given disease</li> <li>Number of carrier couple: from the set of "Total couples", the number of couples in which both members were carriers for the indicated disease</li> <li>Number of carrier couples expected: based on computed carrier couple frequency and number of tested couples, the expected number of carrier couples under the model described in sections 4.3.2 and 4.4 of the supplement.</li> <li>P-value: probability that the number of observed carrier couples or a more extreme count would have occurred by chance, given the posterior distribution over carrier couple counts (see section 4.4 of the supplement). One-tailed p-value.</li> </ul> </li> </ul>
Molecular screening and genetic diversity of tick-borne pathogens associated with dogs and livestock ticks in Egypt
Open the record for dataset details and reuse information.
Supplemental files associated with the the manuscript "Genetic screening and metabolomics identify glial adenosine metabolism as a therapeutic target in Parkinson's disease"
Open the record for dataset details and reuse information.
Supplemantal tables for "A Non-targeted Proteomics Newborn Screening Platform for Genetic Disorders".
<p>Table S1 (List of proteins identified in DBS samples analyzed in the study).</p> <p>The list includes identified proteins with peptide and protein false discovery rates < 1%. Proteins shown in black are those identified by unique peptide sequences that were clearly distinguishable from others. Proteins shown in blue represent grouped master proteins. Proteins shown in grey represent grouped proteins. A quantitative value of “0” indicates that the protein was detected, but did not reach a level sufficient for quantification.</p> <p>Table S2 (Proteins identified in DBS samples that are listed in OMIM)</p> <p>List of proteins identified in every healthy newborn sample that are included in the OMIM database. The list includes identified proteins with peptide and protein false discovery rates < 1%. AD, autosomal dominant; AR, autosomal recessive; ARLOF, autosomal recessive loss of function; XL, X-linked; IUIS2022, 2022 Classification of Human Inborn Errors of Immunity by the International Union of Immunological Societies Expert Committee.</p>
C.Origami: Cell type-specific prediction of 3D chromatin organization enables high-throughput in silico genetic screening
<p>This data repository includes dataset generated from IMR-90, GM12878 cell lines and C.Origami pre-trained model weights.</p> <p>GitHub page: https://github.com/tanjimin/C.Origami</p>
A genome-wide genetic screen uncovers novel determinants of human pigmentation
<p>1717.gwas.imputed_v3.both_sexes.variants.nolowconf.maf01.clumped.txt - GWAS results for LD-clumped genome-wide significant variants from White British skin color GWAS<br> 1717.gwas.imputed_v3.both_sexes.variants.nolowconf.maf01.pbsfilt.100kb.tsv - GWAS results for LD-pruned variants within 100kb of pro-melanin genes<br> eqtl.gwas.minpergene.txt - melanocyte eQTL and White British skin color GWAS results for SNPs near pro-melanin gene. Columns 1-12 are eQTL info, 13 onwards are GWAS info. Select rows with "closest" = TRUE and both p-values < 0.01 to recreate figure in the paper.<br> csv_and_r_script_files.tar- csv and R script files to recreate the figures in the paper. <br> PBS_Pigmentation.tar- txt and R script files to recreate PBS figures in the Figure <br> </p>
Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
ClinicalTrials.gov study NCT04905537. IPD Sharing: Not stated. Countries: 1. Publications: 8.
Preimplantation Genetic Screening (PGS) in Advanced Female Age and Male Severe Factor
ClinicalTrials.gov study NCT01571076. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Pre-Implantation Genetic Screening in Women Under the Age of 36 Years With Single Embryo Transfer
ClinicalTrials.gov study NCT00670059. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Prostate Cancer Genetic Risk Evaluation and Screening Study
ClinicalTrials.gov study NCT05129605. IPD Sharing: NO. Countries: 1. Publications: 2.
The BARCODE 1 Study (Full Study): The Use of Genetic Profiling to Guide Prostate Cancer Targeted Screening.
ClinicalTrials.gov study NCT03857477. IPD Sharing: YES. Countries: 1. Publications: 1.
Preimplantation Genetic Screening in Patients With Male Factor Infertility
ClinicalTrials.gov study NCT02941965. IPD Sharing: NO. Countries: 1. Publications: 3.
Genetic Screening and Assisted Oocyte Activation in Couples with Diminished/aberrant Embryonic Development.
ClinicalTrials.gov study NCT03354013. IPD Sharing: NO. Countries: 1. Publications: 1.
Prostate Cancer Screening Among Men With High Risk Genetic Predisposition
ClinicalTrials.gov study NCT02053805. IPD Sharing: UNDECIDED. Countries: 1. Publications: 2.
Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy
ClinicalTrials.gov study NCT06027385. IPD Sharing: NO. Countries: 1. Publications: 6.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research 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.
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.
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.
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.
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.