Lopes, LR; Zekavati, A; Syrris, P; Hubank, M; Giambartolomei, C; Dalageorgou, C; ... Elliott, PM; + view all Lopes, LR; Zekavati, A; Syrris, P; Hubank, M; Giambartolomei, C; Dalageorgou, C; Jenkins, S; McKenna, W; Uk10k Consortium,; Plagnol, V; Elliott, PM; - view fewer (2013) Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet , 50 (4) 228 - 239. 10.1136/jmedgenet-2012-101270.
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.
|Title:||Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.|
|Open access status:||An open access publication|
|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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