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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Bioinformatics
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2018
Gaiak:
Software
Sarrera elektronikoa: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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