The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool

BACKGROUND: Prioritization of sequence variants for diagnosis and discovery of Mendelian diseases is challenging, especially in large collections of whole genome sequences (WGS). Fast, scalable solutions are needed for discovery research, for clinical applications, and for curation of massive public...

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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: Flygare, Steven, Hernandez, Edgar Javier, Phan, Lon, Moore, Barry, Li, Man, Fejes, Anthony, Hu, Hao, Eilbeck, Karen, Huff, Chad, Jorde, Lynn, G. Reese, Martin, Yandell, Mark
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
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Software
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5819680/
https://ncbi.nlm.nih.gov/pubmed/29463208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-018-2056-y
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