Whole-exome/whole- genome sequencing

The European Journal of Human Genetics has published an article about whole-exome/whole-genome sequencing. Whole-exome/whole- genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought. The full-text article you can find here.