Uk10k Consortium, ;
- view fewer
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
J Med Genet
228 - 239.
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|
|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
Archive Staff Only