工作流程
管道(软件)
计算机科学
钥匙(锁)
基因组
计算生物学
原始数据
基因组学
参考基因组
软件
数据挖掘
数据科学
全基因组测序
生物信息学
1000基因组计划
生物
数据库
遗传学
基因
程序设计语言
操作系统
作者
Géraldine 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 Garimella,David Altshuler,Stacey Gabriel,Mark A. DePristo
标识
DOI:10.1002/0471250953.bi1110s43
摘要
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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