Using genotype array data to compare multi- and single-sample variant calls and improve variant call sets from deep coverage whole-genome sequencing data

MOTIVATION: Variant calling from next-generation sequencing (NGS) data is susceptible to false positive calls due to sequencing, mapping and other errors. To better distinguish true from false positive calls, we present a method that uses genotype array data from the sequenced samples, rather than p...

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Detalles Bibliográficos
Autores principales: Shringarpure, Suyash S, Mathias, Rasika A, Hernandez, Ryan D, O’Connor, Timothy D, Szpiech, Zachary A, Torres, Raul, De La Vega, Francisco M, Bustamante, Carlos D, Barnes, Kathleen C, Taub, Margaret A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408850/
https://www.ncbi.nlm.nih.gov/pubmed/28035032
http://dx.doi.org/10.1093/bioinformatics/btw786

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408850/
https://www.ncbi.nlm.nih.gov/pubmed/28035032
http://dx.doi.org/10.1093/bioinformatics/btw786

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