Article
Genome interpretation using in silico predictors of variant impact.
Human genetics - 1 Oct 2022
Katsonis Panagiotis, Wilhelm Kevin, Williams Amanda, Lichtarge Olivier
Abstract excerpt
Estimating the effects of variants found in disease driver genes opens the door to personalized therapeutic opportunities. Clinical associations and laboratory experiments can only characterize a tiny fraction of all the available variants, leaving the majority as variants of unknown significance (VUS). In silico methods bridge this gap by providing instant estimates on a large scale, most often based on the...
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