Whole exome sequencing closer to becoming ‘new family history’

18 octubre 2014

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, report researchers. A large percentage of these diagnoses made were patients who inherited a new mutation (in the egg or sperm) that was not previously seen in their parents, they add.