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PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research
Article de revue scientifique   Open Access   Avec comité de lecture

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

Victor Marin, Hugo Lannes, Victor Dumont, Julien Thevenon, David Baux, Anne-Françoise Roux, Eulalie Lasseaux, Perrine Pennamen et Louis Lebreton
European Journal of Human Genetics, Vol.34(5), p.667-674
07/03/2026
PMCID: PMC13172359
PMID: 41795033

Résumé

Humans Software Genomics
In the era of rapidly accumulating genomic data, largely driven by the broad use of whole-genome sequencing (WGS) in clinical settings, interpreting lesser-known genes with varied phenotypes remains challenging. PubMatcher is a new tool that simplifies bibliographic research for multiple genes at once and grants quick and easy access to relevant gene information. It helps users efficiently identify potential genotype-phenotype associations using PubMed complemented by additional data. By significantly reducing analysis time, PubMatcher supports the interpretation of novel or under-documented genes. Freely available for academic and non-commercial use, PubMatcher is a user-friendly and efficient solution for researchers, clinical scientists and clinical geneticists working on pan-genomics analyses.

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