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.
Marin et al. (Sat,) studied this question.
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