Introduction

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.

Publications

  1. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
    Cite this
    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, 2013-01-01 - Current protocols in bioinformatics
  2. A framework for variation discovery and genotyping using next-generation DNA sequencing data.
    Cite this
    DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ, 2011-05-01 - Nature genetics
  3. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
    Cite this
    McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA, 2010-09-01 - Genome research

Credits

  1. Geraldine A Van der Auwera
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  2. Mauricio O Carneiro
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  3. Chris Hartl
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  4. Ryan Poplin
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  5. Guillermo del Angel
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  6. Ami Levy-Moonshine
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  7. Tadeusz Jordan
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  8. Khalid Shakir
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  9. David Roazen
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  10. Joel Thibault
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  11. Eric Banks
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  12. Kiran V Garimella
    Developer

    Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom of Great Britain and Northern Ireland

  13. David Altshuler
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  14. Stacey Gabriel
    Developer

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

  15. Mark A DePristo
    Investigator

    Genome Sequencing and Analysis Group, Broad Institute of MIT and Harvard

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Summary
AccessionBT006507
Tool TypeApplication
Category
PlatformsLinux/Unix
Technologies
User InterfaceTerminal Command Line
Download Count0
Submitted ByMark A DePristo