Skip to main content


Below are the current subdomains for this domain.


Genetic population resources

Next generation linkage disequilibrium maps

Germline mutation

Population diversity


1) International HapMap Consortium et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851–861 (2007).
2) 1000 Genomes Project Consortium et al. A global reference for human genetic variation. Nature 526, 68–74 (2015).
3) UK10K Consortium et al. The UK10K project identifies rare variants in health and disease. Nature (2015). doi:10.1038/nature14962
4) Maniatis, N., A. Collins, C-F. Xu, L. C. McCarthy, D. R. Hewett, W. Tapper, S. Ennis, X. Ke, and N. E. Morton. “The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis.” Proc Natl Acad Sci USA 99, no. 4, 2002: 2228-2233.
5) Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, et al. (2012) ‘Rate of de novo mutations and the importance of fathers age to disease risk’. Nature 488: 471-475.
6) MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R, et al. (2014) ‘The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age’. PLoS Genetics 10: e1004195.
7) A Common Variant Associated with Prostate Cancer in European and African Populations. Amundadottir, et al. (2006) Nature Genetics, 38 (6), 652-8.
8) People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population. Winney B, et al. (2012) Eur J Hum Genet.;20(2):203-10
9) Gene-Ancestry Interactions in Genome-Wide Association Data. Davies JL*, Cazier J-B*, et al. (2012) PLoS One, 7(12),

Research plan

Full details of the research proposed by this domain

Population genomics detailed research plan
Get in touch

Contact domain lead

If you have any questions or enquiries regarding this domain, please contact the domain lead using the link below (it will open in your email application).

Explore Genomics England