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

Author:

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

Funder

National Institutes of Health

National Institute of General Medical Sciences

National Human Genome Research Institute

Publisher

Springer Science and Business Media LLC

Subject

Applied Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Structural Biology

Reference33 articles.

1. Cooper GM, Shendure J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet. 2011;12:628–40. https://doi.org/10.1038/nrg3046 . PMID: 21850043

2. Eilbeck K, Quinlan A, Yandell M. Settling the score: variant prioritization and Mendelian disease. Nat Rev Genet. 2017; https://doi.org/10.1038/nrg.2017.52 . PMID: 28804138

3. Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet. 2006;7:61–80. https://doi.org/10.1146/annurev.genom.7.080505.115630 . PMID: 28747718

4. MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508:469–76. https://doi.org/10.1038/nature13127 . PMCID: PMC4180223

5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Committee, ALQA. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. https://doi.org/10.1038/gim.2015.30 . PMCID: PMC4544753

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