Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Xiaolei ZhangRoddy WalshNicola WhiffinRachel BuchanWilliam MidwinterAlicja WilkRisha GovindNicholas LiMian AhmadFrancesco MazzarottoAngharad RobertsPantazis I TheotokisErica MazaikaMona AlloubaAntonio de MarvaoChee Jian PuaSharlene M DayEuan AshleySteven D ColanMichelle MichelsAlexandre C PereiraDaniel JacobyCarolyn Y HoIacopo OlivottoGunnar T GunnarssonJohn L JefferiesChris SemsarianJodie InglesDeclan P O'ReganYasmine AguibMagdi H YacoubStuart A CookPaul J R BartonLeonardo BottoloJames Simon WarePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
A disease-specific variant classifier outperforms state-of-the-art genome-wide tools for rare missense variants in inherited cardiac conditions ( https://www.cardiodb.org/cardioboost/ ), highlighting broad opportunities for improved pathogenicity prediction through disease specificity.