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Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes
Peter Krusche, Len Trigg, Paul C. Boutros, Christopher E. Mason, Francisco M. De La Vega, Benjamin L. Moore, Mar Gonzalez-Porta, Michael A. Eberle, Zivana Tezak, Samir Lababidi, Rebecca Truty, George Asimenos, Birgit Funke, Mark Fleharty, Marc Salit, Justin M Zook, the Global Alliance for Genomics and Health Benchmarking Team
doi: https://doi.org/10.1101/270157
Peter Krusche
1Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Saffron Walden, Essex, CB10 1XL, UK
Len Trigg
2Real Time Genomics, Level 1, South Bloc, 19 Knox St. Hamilton. New Zealand
Paul C. Boutros
3Ontario Institute for Cancer Research, Toronto, Ontario, Canada
Christopher E. Mason
4Weill Cornell Medicine, New York, NY
Francisco M. De La Vega
5Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA
Benjamin L. Moore
1Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Saffron Walden, Essex, CB10 1XL, UK
Mar Gonzalez-Porta
1Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Saffron Walden, Essex, CB10 1XL, UK
Michael A. Eberle
6Illumina Inc., 5200 Illumina Way, San Diego, CA 92122
Zivana Tezak
7Center for Devices and Radiological Health, FDA, Silver Spring, MD
Samir Lababidi
8Office of Health Informatics, Office of the Commissioner, FDA, Silver Spring, MD
Rebecca Truty
9Invitae, 1400 16th St, San Francisco, CA 94103
George Asimenos
10DNAnexus, 730 Market St Suite 2100, San Francisco, CA 94103
Birgit Funke
11Veritas Genetics, 99 Conifer Hill Dr, Danvers, MA 01923
Mark Fleharty
12Broad Institute, 415 Main Street, Cambridge, MA 02142
Marc Salit
13Material Measurement Laboratory, Joint Initiative for Metrology in Biology, National Institute of Standards and Technology, Stanford, CA
Justin M Zook
14Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8301, Gaithersburg, MD 20899
Article usage
Posted March 15, 2018.
Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes
Peter Krusche, Len Trigg, Paul C. Boutros, Christopher E. Mason, Francisco M. De La Vega, Benjamin L. Moore, Mar Gonzalez-Porta, Michael A. Eberle, Zivana Tezak, Samir Lababidi, Rebecca Truty, George Asimenos, Birgit Funke, Mark Fleharty, Marc Salit, Justin M Zook, the Global Alliance for Genomics and Health Benchmarking Team
bioRxiv 270157; doi: https://doi.org/10.1101/270157
Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes
Peter Krusche, Len Trigg, Paul C. Boutros, Christopher E. Mason, Francisco M. De La Vega, Benjamin L. Moore, Mar Gonzalez-Porta, Michael A. Eberle, Zivana Tezak, Samir Lababidi, Rebecca Truty, George Asimenos, Birgit Funke, Mark Fleharty, Marc Salit, Justin M Zook, the Global Alliance for Genomics and Health Benchmarking Team
bioRxiv 270157; doi: https://doi.org/10.1101/270157
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