Article

Creating a universal SNP and small indel variant caller with deep neural networks

2016-12-14

Abstract excerpt

Next-generation sequencing (NGS) is a rapidly evolving set of technologies that can be used to determine the sequence of an individual’s genome 1 by calling genetic variants present in an individual using billions of short, errorful sequence reads 2 . Despite more than a decade of effort and thousands of dedicated researchers, the hand-crafted and parameterized statistical models used for variant calling still p...

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Literature Corpus work: c0d03415-39ae-5c1a-a2c2-3c7a2730983d
DOI: 10.1101/092890

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