From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

作者：Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl, Ryan Poplin, Guillermo del Angel, Ami Levy‐Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault, Eric Banks, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark A. DePristo · 发表于：Current Protocols in Bioinformatics · 年份：2013 · DOI：10.1002/0471250953.bi1110s43 · 被引用次数：7331 · 研究领域：Genomics and Phylogenetic Studies、Genomics and Rare Diseases、Genomic variations and chromosomal abnormalities

Abstract This unit describes how to use BWA and the Genome Analysis Toolkit (GATK) to map genome sequencing data to a reference and produce high‐quality variant calls that can be used in downstream analyses. The complete workflow includes the core NGS data‐processing steps that are necessary to make the raw data suitable for analysis by the GATK, as well as the key methods involved in variant discovery using the GATK. Curr. Protoc. Bioinform . 43:11.10.1‐11.10.33. © 2013 by John Wiley & Sons, Inc.