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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819680/
https://www.ncbi.nlm.nih.gov/pubmed/29463208
http://dx.doi.org/10.1186/s12859-018-2056-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819680/
https://www.ncbi.nlm.nih.gov/pubmed/29463208
http://dx.doi.org/10.1186/s12859-018-2056-y

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