Abnormal foetal development exome trios
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
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
|Illumina HiSeq 2000||86|