Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Roddy WalshKate L ThomsonJames Simon WareBirgit H FunkeJessica WoodleyKaren J McGuireFrancesco MazzarottoEdward BlairAnneke SellerJenny C TaylorEric V Minikelnull Exome Aggregation ConsortiumDaniel G MacArthurMartin FarrallStuart A CookHugh WatkinsPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
We outline improved analytical approaches that evaluate which genes and variant classes are interpretable and propose that these will increase the clinical utility of testing across a range of Mendelian diseases.Genet Med 19 2, 192-203.