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

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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Publication Details

Journal
European Journal of Human Genetics
Published
2026-03-07
DOI
https://doi.org/10.1038/s41431-026-02068-z
Primary Topic
Biomedical Text Mining and Ontologies
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Perrine Pennamen, Louis Lebreton, V Terribile Wiel Marin, Eulalie Lasseaux et al.
European Journal of Human Genetics
Biomedical Text Mining and Ontologies
article

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

Perrine Pennamen, Louis Lebreton, V Terribile Wiel Marin, Eulalie Lasseaux, Anne-Françoise Roux, Hugo Lannes, David Baux, Julien Thevenon
article en

Abstract

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.

European Journal of Human Genetics
Université de Bordeaux (FR), Inserm (FR), Université de Montpellier (FR), Centre Hospitalier Universitaire de Bordeaux (FR), Centre Hospitalier Universitaire de Montpellier (FR), Hôpital Pellegrin (FR), Institut Bergonié (FR), Institute for Neurosciences of Montpellier (FR), Association pour l'Utilisation du Rein Artificiel (FR)
Openalex Percentile: Top 29%
Biomedical Text Mining and Ontologies
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PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research — Perrine Pennamen, Louis Lebreton, et al. · European Journal of Human Genetics (2026) | TGRS Research Map | TGRS