从快速数据到高可信度的变体调用:基因组分析工具包最佳实践管道

Q1 Biochemistry, Genetics and Molecular Biology Current protocols in bioinformatics Pub Date : 2018-03-15 DOI:10.1002/0471250953.bi1110s43

Geraldine A. 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 V. Garimella, David Altshuler, Stacey Gabriel, Mark A. DePristo

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

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.

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Current protocols in bioinformatics Biochemistry, Genetics and Molecular Biology-Biochemistry

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期刊介绍： With Current Protocols in Bioinformatics, it"s easier than ever for the life scientist to become "fluent" in bioinformatics and master the exciting new frontiers opened up by DNA sequencing. Updated every three months in all formats, CPBI is constantly evolving to keep pace with the very latest discoveries and developments.

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