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Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes, LR; Zekavati, A; Syrris, P; Hubank, M; Giambartolomei, C; Dalageorgou, C; ... Elliott, PM; + view all (2013) Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet , 50 (4) 228 - 239. 10.1136/jmedgenet-2012-101270. Gold open access

Abstract

Clinical interpretation of the large number of rare variants identified by high throughput sequencing (HTS) technologies is challenging. The aim of this study was to explore the clinical implications of a HTS strategy for patients with hypertrophic cardiomyopathy (HCM) using a targeted HTS methodology and workflow developed for patients with a range of inherited cardiovascular diseases. By comparing the sequencing results with published findings and with sequence data from a large-scale exome sequencing screen of UK individuals, we sought to quantify the strength of the evidence supporting causality for detected candidate variants.

Type:Article
Title:Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Location:England
Open access status:An open access publication
DOI:10.1136/jmedgenet-2012-101270
Language:English
Additional information:PMCID: PMC3607113
Keywords:Adult, Amino Acid Substitution, Cardiomyopathy, Hypertrophic, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Mutation, Pedigree, Polymorphism, Single Nucleotide, Sarcomeres
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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