Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes
the Global Alliance for Genomics and Health Benchmarking Team, Peter Krusche, Len Trigg, Paul Christopher Boutros, Christopher E. Mason, Francisco M. De La Vega, Benjamin L. Moore, Mar Gonzàlez-Porta, Michael A. Eberle, Živana Težak, Samir Lababidi, Rebecca Truty, George Asimenos, Birgit Funke, Mark Fleharty, , Justin M. Zook
The paper develops standardized tools and best practices for benchmarking germline small variant calls in human genomes using truth sets and performance metrics.
Nature Biotechnology · Mar 11, 2019Peer-reviewedGenomics