Article
Next-generation sequencing and the evolution of data sharing.
American journal of medical genetics. Part A - 1 Sept 2021
de Macena Sobreira Nara Lygia, Hamosh Ada
Abstract excerpt
Disease gene identification often relies on identifying multiple affected individuals with similar phenotypes and candidate variants in the same gene. Phenotypic and genomic data sharing tools have facilitated connections that led to novel disease gene discoveries and better characterization and recognition of rare diseases. Additionally, data sharing has evolved. From gene-based matches to variant-level...
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