Article

A robust benchmark for germline structural variant detection

2019-06-09

Abstract excerpt

New technologies and analysis methods are enabling genomic structural variants (SVs) to be detected with ever-increasing accuracy, resolution, and comprehensiveness. Translating these methods to routine research and clinical practice requires robust benchmark sets. We developed the first benchmark set for identification of both false negative and false positive germline SVs, which complements recent efforts emphas...

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Literature Corpus work: a3e59d32-02b0-5c1e-a86a-c20880b8d4d6
DOI: 10.1101/664623

Open publication

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