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 heterogeneous (e.g. summarized by different experts), which complicates automated reading and understanding of the data. Here, we used Natural Language Processing (NLP) to make a tool (Gene-Phenotype Association Discovery (GPAD)) that could syntactically process OMIM text and extract the data of interest.

Results

GPAD applies a series of language-based techniques to the text obtained from OMIM API to extract GDA discovery-related information. GPAD can inform when a particular gene was associated wit

SUBMITTER: Rahit KMTH 

PROVIDER: S-EPMC10898068 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature