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

Authors :
Van der Auwera GA
Carneiro MO
Hartl C
Poplin R
Del Angel G
Levy-Moonshine A
Jordan T
Shakir K
Roazen D
Thibault J
Banks E
Garimella KV
Altshuler D
Gabriel S
DePristo MA
Source :
Current protocols in bioinformatics [Curr Protoc Bioinformatics] 2013; Vol. 43, pp. 11.10.1-11.10.33.
Publication Year :
2013

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.

Details

Language :
English
ISSN :
1934-340X
Volume :
43
Database :
MEDLINE
Journal :
Current protocols in bioinformatics
Publication Type :
Academic Journal
Accession number :
25431634
Full Text :
https://doi.org/10.1002/0471250953.bi1110s43