Article
The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.
BMC bioinformatics - 20 Feb 2018
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
Abstract excerpt
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 variant repositories such as dbSNP and gnomAD. In response, we have developed VVP, the VAAST Variant Prioritizer....
Topics
- Computational Biology
- Databases, Genetic
- Genetic Variation
- Genome, Human
- Humans
- Polymorphism, Single Nucleotide
- ROC Curve
- Software
- Time Factors
- Whole Genome Sequencing