Study

UK10K RARE COLOBOMA

Study ID Alternative Stable ID Type
EGAS00001000127 Other

Study Description

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 exome sequence (protein coding regions and related conserved sequence) of 6000 samples selected for extreme phenotypes. Our studies will focus primarily on cardiovascular-related quantitative traits, obesity and related metabolic traits, neurodevelopmental disorders and a limited number of extreme clinical phenotypes that will provide proof-of-concept for future familial trait sequencing. We will analyse directly quantitative traits in the cohorts and the selected traits in the extreme samples, and also use imputation down to 0.1% allele frequency to extend the analyses to further sample sets with genome wide genotype data. In each case we will investigate indels and larger structural variants as well as SNPs, and use statistical methods that combine rare variants in a locus or pathway as ... (Show More)

Study Datasets 5 datasets.

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
EGAD00001000179
UK10K_RARE_COLOBOMA REL-2012-01-13
Illumina Genome Analyzer II,Illumina HiSeq 2000 75
EGAD00001000185
UK10K_RARE_COLOBOMA REL-2012-02-22
Illumina Genome Analyzer II,Illumina HiSeq 2000 98
EGAD00001000206
UK10K_RARE_COLOBOMA REL-2012-07-05
Illumina Genome Analyzer II,Illumina HiSeq 2000 123
EGAD00001000307
UK10K_RARE_COLOBOMA REL-2012-11-27
Illumina Genome Analyzer II,Illumina HiSeq 2000 117
EGAD00001000415
UK10K_RARE_COLOBOMA REL-2013-04-20
Illumina Genome Analyzer II,Illumina HiSeq 2000 123

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