Article

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

2018-10-31

Abstract excerpt

Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed in a consistent, transparent and reproducible fashion, using independently, orthogonally generated data. Here we present ICR142 Benchmarker, a tool to generate outputs for assessing germline base...

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Literature Corpus work: b5da4cd1-b831-55be-8011-51ec63bb516b
DOI: 10.12688/wellcomeopenres.14754.2

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