Article

Scaling accurate genetic variant discovery to tens of thousands of samples

2017-11-14

Abstract excerpt

Comprehensive disease gene discovery in both common and rare diseases will require the efficient and accurate detection of all classes of genetic variation across tens to hundreds of thousands of human samples. We describe here a novel assembly-based approach to variant calling, the GATK HaplotypeCaller (HC) and Reference Confidence Model (RCM), that determines genotype likelihoods independently per-sample but per...

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Literature Corpus work: 3535cd00-e34f-548b-9e79-f2796d873f66
DOI: 10.1101/201178

Open publication

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