PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research

Area of Science:

• Genomics
• Bioinformatics
• Clinical Genetics

Background:

• Interpreting genomic data, especially from whole-genome sequencing (WGS), is challenging due to the vast amount of information.
• Identifying genotype-phenotype associations for lesser-known genes requires extensive literature review.

Purpose of the Study:

• To introduce PubMatcher, a novel tool designed to streamline bibliographic research for gene interpretation.
• To facilitate efficient identification of genotype-phenotype associations for researchers and clinicians.

Main Methods:

• PubMatcher integrates PubMed data with additional sources for comprehensive gene information retrieval.
• The tool enables simultaneous bibliographic research for multiple genes.

Main Results:

• PubMatcher significantly reduces the time required for analyzing gene information.
• It provides quick access to relevant data, supporting the interpretation of novel or under-documented genes.

Conclusions:

• PubMatcher offers a user-friendly and efficient solution for genomic data interpretation.
• The tool supports researchers, clinical scientists, and geneticists in pan-genomics analyses.