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Abnormal_foetal_development_exome_trios

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

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001001442 Illumina HiSeq 2000 86
Publications Citations
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Hum Mol Genet 23: 2014 3269-3277
87