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

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...

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Dades bibliogràfiques
Publicat a:Curr Protoc Bioinformatics
Autors principals: Van der Auwera, Geraldine A., Carneiro, Mauricio O., Hartl, Chris, Poplin, Ryan, del Angel, Guillermo, Levy-Moonshine, Ami, Jordan, Tadeusz, Shakir, Khalid, Roazen, David, Thibault, Joel, Banks, Eric, Garimella, Kiran V., Altshuler, David, Gabriel, Stacey, DePristo, Mark A.
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4243306/
https://ncbi.nlm.nih.gov/pubmed/25431634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/0471250953.bi1110s43
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