Journal article

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

Emma S Singer, Samantha B Ross, Jon R Skinner, Robert G Weintraub, Jodie Ingles, Christopher Semsarian, Richard D Bagnall

Genetics in Medicine | SPRINGERNATURE | Published : 2020


PURPOSE: Copy-number variant (CNV) analysis is increasingly performed in genetic diagnostics. We leveraged recent gene curation efforts and technical standards for interpretation and reporting of CNVs to characterize clinically relevant CNVs in patients with inherited heart disease and sudden cardiac death. METHODS: Exome sequencing data were analyzed for CNVs using eXome-Hidden Markov Model tool in 48 established disease genes. CNV breakpoint junctions were characterized. CNVs were classified using the American College of Medical Genetics and Genomics technical standards. RESULTS: We identified eight CNVs in 690 unrelated probands (1.2%). Characterization of breakpoint junctions revealed no..

View full abstract


Awarded by National Health and Medical Research Council (NHMRC)

Awarded by NHMRC Career Development Fellowship

Funding Acknowledgements

C.S. is the recipient of a National Health and Medical Research Council (NHMRC) Practitioner Fellowship (1154992); J.I. is the recipient of an NHMRC Career Development Fellowship (1162929); R.D.B. is the recipient of a New South Wales Health Cardiovascular Disease Senior Scientist Grant.