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5 results for “Gene-Disease Association”

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zenodo44/100

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

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

opencc-by-4.0Dec 2021View details →
zenodo44/100

Building Large-Scale Gene-Disease Association Datasets for Biomedical Relation Extraction

<p>This repository contains the GDAb and GDAt datasets. GDAb and GDAt are large-scale, distantly supervised, and manually enhanced datasets for Gene-Disease Association (GDA) extraction. Each 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&nbsp;corresponds to a single GDA extracted from a sentence. Records are represented as JSON objects with the following structure:</p> <ul> <li><strong>text:</strong>&nbsp;sentence from which the GDA was extracted.</li> <li><strong>relation:</strong>&nbsp;relation name associated to the given GDA.</li> <li><strong>h:&nbsp;</strong>JSON object representing the gene entity, composed of: <ul> <li><strong>id:&nbsp;</strong>UMLS CUI associated to the gene entity.</li> <li><strong>name:</strong>&nbsp;UMLS preferred name associated to the gene entity.</li> <li><strong>pos:&nbsp;</strong>list consisting of starting position and length of the gene mention within text.</li> </ul> </li> <li><strong>t:</strong>&nbsp;JSON object representing the disease entity, composed of: <ul> <li><strong>id:&nbsp;</strong>UMLS CUI associated to the disease entity.</li> <li><strong>name:</strong>&nbsp;UMLS preferred name associated to the disease entity.</li> <li><strong>pos:</strong>&nbsp;list consisting of starting position and length of the disease mention within text.</li> </ul> </li> </ul> <p>Both datasets contain over 2,500,000 sentences and 500,000 bags.<br> The zip file consists of two folders, GDAb and GDAt,&nbsp;&nbsp;containing the files corresponding to the two datasets, respectively.</p> <p>&nbsp;</p>

opencc-by-4.0Jul 2021View details →
zenodo32/100

Automated application to assist in detecting novel gene-disease associations following whole genome sequencing

<p>Results files, analysis scripts and original software&nbsp;from TierUp reanalysis performed on June 2020. These data contribute to the publication titled &quot;Automated reanalysis application to assist in detecting novel gene-disease associations following whole genome sequencing&quot;.&nbsp;</p> <ul> <li> <p>tierup_v0-3-0.tar.gz - source code used in the reanalysis</p> </li> <li> <p>tierup_results_summary.tar.gz - raw data and python code for publication figures</p> </li> </ul> <p>&nbsp;</p>

opencc-by-4.0Oct 2021View details →
dryad28/100

Data from: The implicitome: a resource for rationalizing gene-disease associations

High-throughput experimental methods such as medical sequencing and genome-wide association studies (GWAS) identify increasingly large numbers of potential relations between genetic variants and diseases. Both biological complexity (millions of potential gene-disease associations) and the accelerating rate of data production necessitate computational approaches to prioritize and rationalize potential gene-disease relations. Here, we use concept profile technology to expose from the biomedical literature both explicitly stated gene-disease relations (the explicitome) and a much larger set of implied gene-disease associations (the implicitome). Implicit relations are largely unknown to, or are even unintended by the original authors, but they vastly extend the reach of existing biomedical knowledge for identification and interpretation of gene-disease associations. The implicitome can be used in conjunction with experimental data resources to rationalize both known and novel associations. We demonstrate the usefulness of the implicitome by rationalizing known and novel gene-disease associations, including those from GWAS. To facilitate the re-use of implicit gene-disease associations, we publish our data in compliance with FAIR Data Publishing recommendations [https://www.force11.org/group/fairgroup] using nanopublications. An online tool (http://knowledge.bio) is available to explore established and potential gene-disease associations in the context of other biomedical relations.

opencc-zeroDec 2015View details →
dryad28/100

Data from: The implicitome: a resource for rationalizing gene-disease associations

Open the record for dataset details and reuse information.

publicMar 2017View details →

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