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UK10K_RARE_HYPERCHOL

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 well as single-variant approaches.Familial Hypercholesterolemia is a condition where the affected person has a consistently high level of LDL which can lead to early clogging of the coronary arteries. All patients selected for this study will have been found not to carry the common APOB and PCSK9 mutations, and to have no detectable LDLR mutations by testing for 18 common mutations. For further information with regard to this cohort please contact Steve Humphries(steve.humphries@ucl.ac.uk).

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
EGAD00001000167 Illumina Genome Analyzer II Illumina HiSeq 2000 48
EGAD00001000186 Illumina Genome Analyzer II Illumina HiSeq 2000 71
EGAD00001000207 Illumina Genome Analyzer II Illumina HiSeq 2000 88
EGAD00001000295 Illumina Genome Analyzer II Illumina HiSeq 2000 120
EGAD00001000417 Illumina Genome Analyzer II Illumina HiSeq 2000 125
Publications Citations
The UK10K project identifies rare variants in health and disease.
Nature 526: 2015 82-90
622
Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.
Ann Clin Transl Neurol 8: 2021 1376-1387
7