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

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

Abstract 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 massiv...

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Bibliographic Details
Main Authors: Steven Flygare, Edgar Javier Hernandez, Lon Phan, Barry Moore, Man Li, Anthony Fejes, Hao Hu, Karen Eilbeck, Chad Huff, Lynn Jorde, Martin G. Reese, Mark Yandell
Format: Article
Language:English
Published: BMC 2018-02-01
Series:BMC Bioinformatics
Subjects:
Variant prioritization
Genomics
Human genome
Variants of uncertain significance
Online Access:http://link.springer.com/article/10.1186/s12859-018-2056-y

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