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VariantMatcher: Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene Discovery.

American journal of medical genetics. Part A - 1 Jul 2026

Villela Darine, Szeremeta Marcelo, Sobreira Joselito, Alencar Dayse, Martin Renan, Loureiro Thereza, Bermeo Diana, Gomes Mireille, de Castro Luciana Santos Serrao, Palmero Edenir Inez, Scapulatempo-Neto Cristovam, Sobreira Nara

Abstract excerpt

VariantMatcher is a web-based platform developed to share variant-level genomic data and phenotypic information. Here, we describe the experience of a clinical laboratory in Brazil, DASA, utilizing VariantMatcher to enhance variant classification in a clinical setting. We retrospectively analyzed 3025 molecular genetic test results to identify variants classified as variants of uncertain significance (VUS). Of...

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PMID: 41795183
DOI: 10.1002/ajmg.a.70090

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