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Article

GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM.

BMC bioinformatics - 27 Feb 2024

Rahit K M Tahsin Hassan, Avramovic Vladimir, Chong Jessica X, Tarailo-Graovac Maja

Abstract excerpt

BACKGROUND: Thousands of genes have been associated with different Mendelian conditions. One of the valuable sources to track these gene-disease associations (GDAs) is the Online Mendelian Inheritance in Man (OMIM) database. However, most of the information in OMIM is textual, and heterogeneous (e.g. summarized by different experts), which complicates automated reading and understanding of the data. Here, we used...

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PMID: 38413851
DOI: 10.1186/s12859-024-05693-x
PMCID: PMC10898068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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