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

TLDR

This unit explains how to use BWA and the Genome Analysis Toolkit (GATK) to map sequencing data to a reference genome and generate high‑quality variant calls for downstream analyses. The workflow comprises core NGS data‑processing steps to prepare raw data for GATK and key methods for variant discovery using the GATK. © 2013 John Wiley & Sons, Inc.

Abstract

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.