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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. These samples have been collected from throughout the UK and Ireland. The samples fall into two main categories, approximately 500 have a full diagnostic work up. A proportion of these are cases with a positive family history of schizophrenia, either collected as sib-pairs or from multiplex kindred's. The second group consist mainly of >300 samples that have been systematically collected within South Wales and in addition to full diagnostic work up have undergone detailed cognitive testing. All samples have obtained a DSM IV diagnosis of schizophrenia or schizoaffective disorder.For further information on this cohort please contact Michael Owen (

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
EGAD00001000182 Illumina HiSeq 2000 95
EGAD00001000256 Illumina HiSeq 2000 595
EGAD00001000335 Illumina HiSeq 2000 527
EGAD00001000430 Illumina HiSeq 2000 554
Publications Citations
The UK10K project identifies rare variants in health and disease.
Nature 526: 2015 82-90
scoreInvHap: Inversion genotyping for genome-wide association studies.
PLoS Genet 15: 2019 e1008203