Study

Abnormal_foetal_development_exome_trios

Study ID Alternative Stable ID Type
EGAS00001000167 Other

Study Description

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

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001001442
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

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