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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research
Victor Marin1,2, Hugo Lannes, Victor Dumont
1Service de Biochimie, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux, France. victor.marin@chu-bordeaux.fr.
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.
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