Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

Abstract Introduction The role of copy-number variants (CNV) as a cause of hypertrophic cardiomyopathy (HCM) is poorly studied. The aim of this study was to use high-throughput sequence (HTS) data combined with a read-depth strategy, to screen for CNV in cardiomyopathy-associated genes in a large co...

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Veröffentlicht in:	European journal of medical genetics 2015-11, Vol.58 (11), p.611-616
Hauptverfasser:	Lopes, L.R, Murphy, C, Syrris, P, Dalageorgou, C, McKenna, W.J, Elliott, P.M, Plagnol, V
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Cardiomyopathy, Hypertrophic - diagnosis Cardiomyopathy, Hypertrophic - genetics Carrier Proteins - genetics Copy number variants DNA Copy Number Variations Exome Genetic Testing High-Throughput Nucleotide Sequencing High-throughput sequencing Humans Hypertrophic cardiomyopathy LIM Domain Proteins - genetics Medical Education Microfilament Proteins - genetics Molecular Sequence Data Sequence Analysis, DNA Troponin T - genetics
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