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October 1, 2013Current Protocols in Bioinformatics7,327 citations

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

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GAGeraldine Van Der AuweraMCMauricio O. CarneiroCHChristopher Hartl

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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.

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Auwera et al. (2013) studied this question.

synapsesocial.com/papers/69d5723a75589c71d767e635https://doi.org/10.1002/0471250953.bi1110s43
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