EGAS00001000167-sc-20150720 - samples

ABSTRACT: This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage and identify de novo functional variants using an algorithm developed in the Hurles group

PROVIDER: EGAD00001001442 | EGA |

REPOSITORIES: EGA