Article
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019
Horvat Claire, Johnson Renee, Lam Lien, Munro Jacob, Mazzarotto Francesco, Roberts Angharad M, Herman Daniel S, Parfenov Michael, Haghighi Alireza, McDonough Barbara, DePalma Steven R, Keogh Anne M, Macdonald Peter S, Hayward Christopher S, Roberts Amy, Barton Paul J R, Felkin Leanne E, Giannoulatou Eleni, Cook Stuart A, Seidman J G, Seidman Christine E, Fatkin Diane
Abstract excerpt
PURPOSE: We evaluated strategies for identifying disease-causing variants in genetic testing for dilated cardiomyopathy (DCM). METHODS: Cardiomyopathy gene panel testing was performed in 532 DCM patients and 527 healthy control subjects. Rare variants in 41 genes were stratified using variant-level and gene-level characteristics. RESULTS: A majority of DCM cases and controls carried rare protein-altering...
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