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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-04-10

AUTHORS

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

ABSTRACT

Mark DePristo and colleagues report an analytical framework to discover and genotype variation using whole exome and genome resequencing data from next-generation sequencing technologies. They apply these methods to low-pass population sequencing data from the 1000 Genomes Project.

PAGES

491-498

Journal

TITLE

Nature Genetics

ISSUE

5

VOLUME

43

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.806

    DOI

    http://dx.doi.org/10.1038/ng.806

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1010244476

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21478889


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