From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

从 FastQ 数据到高置信度变异检测:基因组分析工具包最佳实践流程

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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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