A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A Depristo; Eric Banks; Aaron Mckenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo Del Angel; Manuel A Rivas; Matt Hanna

doi:10.1038/ng.806

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Journal article

Open access

Peer reviewed

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A Depristo, Eric Banks, Aaron Mckenna, Tim J Fennell, Andrew M Kernytsky, Andrey Y Sivachenko, Kristian Cibulskis, Stacey B Gabriel, David Altshuler, Mark J Daly, …

Nature genetics, Vol.43(5), pp.491-498

2011

DOI: https://doi.org/10.1038/ng.806

PMCID: PMC3083463

PMID: 21478889

Abstract

Biological and medical sciences

Fundamental and applied biological sciences. Psychology

Genetics of eukaryotes. Biological and molecular evolution

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Title: A framework for variation discovery and genotyping using next-generation DNA sequencing data
Creators: Mark A Depristo - Broad Institute
Eric Banks - Broad Institute
Aaron Mckenna - Broad Institute
Tim J Fennell - Broad Institute
Andrew M Kernytsky - Broad Institute
Andrey Y Sivachenko - Broad Institute
Kristian Cibulskis - Broad Institute
Stacey B Gabriel - Broad Institute
David Altshuler - Broad Institute
Mark J Daly - Broad Institute
Ryan Poplin - Broad Institute
Kiran V Garimella - Broad Institute
Jared R Maguire - Broad Institute
Christopher Hartl - Broad Institute
Anthony A Philippakis - Broad Institute
Guillermo Del Angel - Broad Institute
Manuel A Rivas - Broad Institute
Matt Hanna - Broad Institute
Publication Details: Nature genetics, Vol.43(5), pp.491-498
Publisher: Nature Publishing Group
Identifiers: 9924086875201921
Academic Unit: Rabb School of Continuing Studies, Division of Graduate Professional Studies
Language: English
Resource Type: Journal article

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Abstract

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