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Life Sciences, Bioinformatics, Biology +12

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

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A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

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