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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. The Raymond samples will be part of the “rare disease” group, and will undergo exome sequencing. For further information with regard to this cohort please contact Lucy Raymond (

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
EGAD00001000171 Illumina Genome Analyzer II Illumina HiSeq 2000 44
EGAD00001000190 Illumina Genome Analyzer II Illumina HiSeq 2000 90
EGAD00001000209 Illumina Genome Analyzer II Illumina HiSeq 2000 121
EGAD00001000297 Illumina Genome Analyzer II Illumina HiSeq 2000 124
EGAD00001000416 Illumina Genome Analyzer II Illumina HiSeq 2000 124
EGAD00001000750 Illumina HiSeq 2000 1151
EGAD00001000753 Illumina HiSeq 2000 4
EGAD00001000803 Illumina HiSeq 2000 2
Publications Citations
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
J Clin Invest 125: 2015 1670-1678
The UK10K project identifies rare variants in health and disease.
Nature 526: 2015 82-90
SYT1-associated neurodevelopmental disorder: a case series.
Brain 141: 2018 2576-2591
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Front Genet 10: 2019 578
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord 35: 2020 1357-1368