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

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

Abstract 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 heterogene...

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Bibliographic Details
Main Authors: K. M. Tahsin Hassan Rahit, Vladimir Avramovic, Jessica X. Chong, Maja Tarailo-Graovac
Format: Article
Language:English
Published: BMC 2024-02-01
Series:BMC Bioinformatics
Subjects:
Mendelian disorder
NLP
Gene-disease relationship
Gene discovery
Rare disease gene
Trends in gene discovery
Online Access:https://doi.org/10.1186/s12859-024-05693-x

Internet

https://doi.org/10.1186/s12859-024-05693-x

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