Article
GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes.
Nature genetics - 1 Jan 2020
Abramovs Nikita, Brass Andrew, Tassabehji May
Abstract excerpt
With large-scale population sequencing projects gathering pace, there is a need for strategies that advance disease gene prioritization1,2. Metrics that provide information about a gene and its ability to tolerate protein-altering variation can aid in clinical interpretation of human genomes and can advance disease gene discovery1-4. Previous reported methods analyzed the total variant load in a gene1-4, but did...
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