EGAS00001000429-sc-20150729 - samples

Previously we performed deep WGS on 6 parents and 13 children from 3 large families from the Scottish Family Health Study to identify de novo mutations. This prelim is cover the additional sequencing of one grandchild from one of these three families. The inclusion of a third generation individual will provide additional experimental validation for the de novo mutations found in the initial trio. As in the previous study, the DNA will be WGS to a depth of approximately 25X to achieve this purpose. These data can only be used for the investigation of the genetic causes of the reported clinical phenotypes in these patientsEGA dataset EGAD00001001454