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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年3月7日

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  • Victor Marin,
  • Hugo Lannes,
  • Victor Dumont,
  • Julien Thevenon,
  • David Baux,
  • Anne-Françoise Roux,
  • Eulalie Lasseaux,
  • Perrine Pennamen,
  • Louis Lebreton

摘要

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.