Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays

被引：0
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作者：
Vandhana Krishnan
Sowmithri Utiramerur
Zena Ng
Somalee Datta
Michael P. Snyder
Euan A. Ashley
机构：
[1] Stanford University,Department of Genetics, School of Medicine
[2] Stanford University,Stanford Center for Genomics and Personalized Medicine
[3] Stanford Health Care,Clinical Genomics Program
[4] Stanford University,Department of Cardiovascular Medicine
[5] Stanford University,Department of Biomedical Data Science
[6] Stanford University,School of Medicine, Research IT
[7] Roche Diagnostics Solutions, Technology and Digital Solutions
[8] Research and Early Development,undefined
来源：
BMC Bioinformatics | / 22卷
关键词：
Benchmarking; Workflow; GIAB reference genomes; Precision; Recall; Truth set; Docker; Germline variants; Lab developed tests;
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