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Number of citations per year for the bioinformatics software tool UK10K

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UK10K specifications


Unique identifier OMICS_13486
Name UK10K
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes


  • person_outline Jonathan Marchini

Publications for UK10K

UK10K citations


Sex specific glioma genome wide association study identifies new risk locus at 3p21.31 in females, and finds sex differences in risk at 8q24.21

Sci Rep
PMCID: 5943590
PMID: 29743610
DOI: 10.1038/s41598-018-24580-z
call_split See protocol

[…] ed in Melin et al.. All datasets were imputed separately using SHAPEIT v2.837 and IMPUTE v2.3.2 using a merged reference panel consisting of data from phase three of the 1,000 genomes project and the UK10K–.TCGA cases were genotyped on the Affymetrix Genomewide 6.0 array using DNA extracted from whole blood (see previous manuscript for details of DNA processing,), and underwent standard GWAS QC, a […]


Genome wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

Nat Commun
PMCID: 5940788
PMID: 29739929
DOI: 10.1038/s41467-018-04086-y

[…] that was specifically designed for the purpose of genotyping the UK Biobank participants, and the UK BiLEVE array (N = 49,982), that was designed to study the genetics of lung health and disease. The UK10K haplotype reference and the 1000 Genomes Phase 3 reference panels were merged and used as reference panel in the IMPUTE2 software. Kinship coefficients for all pairs were calculated using KING’s […]


Survey and evaluation of mutations in the human KLF1 transcription unit

Sci Rep
PMCID: 5920080
PMID: 29700354
DOI: 10.1038/s41598-018-24962-3

[…] NTI ContigExpress software (ThermoFisher Scientific). SNPs and any associated parameters were identified from the 1000 Genomes databases,,. Other datasets queried included BloodSpot, cBioPortal, GGV, UK10K,, COSMIC, and NCBI public resources. […]


The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression

Nat Commun
PMCID: 5917026
PMID: 29695719
DOI: 10.1038/s41467-018-04082-2

[…] mes Phase 3 compendium reference data (October 2014 release). The German, UK, and US myeloma sample sets were genotyped previously on Illumina Human OmniExpress-12 v.1.0 arrays, and imputed using the UK10K compendium,,. For the Icelandic blood samples, genotypes were obtained by imputing variants identified by whole-genome sequencing of 8453 Icelanders into 150,656 chip genotyped individuals using […]


Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank

Sci Rep
PMCID: 5915424
PMID: 29691431
DOI: 10.1038/s41598-018-24735-y

[…] UK BiLEVE and UK Biobank Axiom arrays, respectively) and 805,426 single nucleotide polymorphisms (SNPs), which were the imputed with IMPUTE2 by using both HRC and 1000 Genomes Phase 3 merged with the UK10K haplotype reference panels, so that the HRC was preferred for SNPs present in both panels. In our analysis, we used July 2017 release of the imputed genetic marker data, by excluding genetic mar […]


Deep whole genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese

Nat Commun
PMCID: 5915442
PMID: 29691385
DOI: 10.1038/s41467-018-03274-0

[…] f the worldwide populations were obtained from gnomAD (n = 4368 for African, n = 419 for admixed American, n = 811 for east Asian, n = 1747 for Finnish, and n = 7509 for Non-Finnish European) and the UK10K project (n = 7652 for European),. Effective population sizes of the subjects were estimated for each dataset separately, using WGS data of randomly selected subjects (n = 100 for each dataset) a […]

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UK10K institution(s)
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; Adaptive Biotechnologies Corporation, Seattle, WA, USA; MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Clifton, Bristol, UK; Biology and Genetics, Department of Life and Reproduction Sciences, University of Verona, Italy; Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada; Department of Medicine, McGill University, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada; Division of Nephrology and Dialysis, Institute of Internal Medicine, Renal Program, Columbus-Gemelli University Hospital, Catholic University, Rome, Italy; The Department of Twin Research and Genetic Epidemiology, King’s College London, St Thomas’ Campus, Lambeth Palace Road, London, UK; Department of Statistics, University of Oxford, Oxford, UK; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, UK; Department of Haematology, University of Cambridge, Long Road, Cambridge, UK
UK10K funding source(s)
This project is supported by the Wellcome Trust (Grant Codes WT098051 and WT091310), the European Commission (EUFP7 EPIGENESYS Grant Code 257082 and BLUEPRINT Grant Code HEALTH-F5-2011-282510) and the NIHR, the CIHR, CQDM, FRSQ and the Jewish General Hospital. It was also supported by Canadian Institutes of Health Research and the UK Medical Research Council (MRC) (MC_UU_12013/3).

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