Study

UK10K COHORT TWINSUK

Study ID Alternative Stable ID Type
EGAS00001000108 Whole Genome Sequencing

Study Description

The UK10K project proposes 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 directly analyse 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 4 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
EGAD00001000194
UK10K_COHORT_TWINS REL-2011-12-01
Illumina Genome Analyzer II,Illumina HiSeq 2000 1713
EGAD00001000741
UK10K_COHORT_TWINSUK REL-2012-06-02: Low-coverage whole genome sequencing; variant calling, genotype calling and phasing
Illumina Genome Analyzer II,Illumina HiSeq 2000 1854
EGAD00001000776
UK10K_COHORT_IMPUTATION REL-2012-06-02: imputation reference panel (20140306); Merged UK10K+1000Genomes Phase 3 imputation reference panel added (20160420)
Illumina Genome Analyzer II,Illumina HiSeq 2000 3781
EGAD00001000790
UK10K_COHORT_TWINSUK REL-2012-06-02: Phenotype data
1854

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