Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

@inproceedings{Lopes2013GeneticCI,
  title={Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing},
  author={Lu{\'i}s Rocha Lopes and Anna Zekavati and Petros Syrris and Mike Hubank and Claudia Giambartolomei and Chrysoula Dalageorgou and S. E. Jenkins and William J. McKenna and Vincent Plagnol and Perry M Elliott},
  booktitle={Journal of medical genetics},
  year={2013}
}
BACKGROUND 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… CONTINUE READING
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