Article
MaveQuest: a web resource for planning experimental tests of human variant effects.
Bioinformatics (Oxford, England) - 1 Jun 2020
Kuang Da, Weile Jochen, Li Roujia, Ouellette Tom W, Barber Jarry A, Roth Frederick P
Abstract excerpt
SUMMARY: Fully realizing the promise of personalized medicine will require rapid and accurate classification of pathogenic human variation. Multiplexed assays of variant effect (MAVEs) can experimentally test nearly all possible variants in selected gene targets. Planning a MAVE study involves identifying target genes with clinical impact, and identifying scalable functional assays for that target. Here, we...
Topics
- Humans
- Phenotype
- Software