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

G. Auwera,Mauricio O. Carneiro,12 Authors,M. DePristo

2013 · DOI: 10.1002/0471250953.bi1110s43
Current Protocols in Bioinformatics · 6,459 Citations

TLDR

This unit describes how to use BWA and the Genome Analysis Toolkit to map genome sequencing data to a reference and produce high‐quality variant calls that can be used in downstream analyses.