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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 a...
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 a...
UK10K_RARE_NEUROMUSCULAR REL-2012-11-27
UK10K_RARE_NEUROMUSCULAR REL-2012-01-13
UK10K_RARE_NMWG REL-2013-03-06
UK10K_RARE_NEUROMUSCULAR REL-2013-04-20
UK10K_RARE_NEUROMUSCULAR REL-2012-02-22
UK10K_RARE_NMWG REL-2013-09-09
UK10K_RARE_NEUROMUSCULAR REL-2012-07-05
In the UK10K project we propose a series of complementary genetic approaches to find new low frequency/rare variants contributing to disease phenotypes. These will be based on obtaining the genome wide sequence of 4000 samples from the TwinsUK and ALSPAC cohorts (at 6x sequence coverage), and the ex...
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