Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death
Emma S. Singer, Samantha Barratt Ross, Jonathan R. Skinner, Robert G. Weintraub, Jodie Ingles, Christopher Semsarian, Richard D. Bagnall
Topics & Concepts
Copy-number variationGeneticsExome sequencingBreakpointGene duplicationNon-allelic homologous recombinationGenetic testingBiologyProbandExomeHaplotypeGeneGenomeAlleleMutationChromosomeGenetic recombinationRecombinationCongenital heart defects researchGenomic variations and chromosomal abnormalitiesCardiac electrophysiology and arrhythmias