Article

Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes

2018-02-23

Abstract excerpt

Assessing accuracy of NGS variant calling is immensely facilitated by a robust benchmarking strategy and tools to carry it out in a standard way. Benchmarking variant calls requires careful attention to definitions of performance metrics, sophisticated comparison approaches, and stratification by variant type and genome context. The Global Alliance for Genomics and Health (GA4GH) Benchmarking Team has developed st...

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Literature Corpus work: 08fccd65-48ca-5692-a712-0704857cbc9e
DOI: 10.1101/270157

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