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http://hapmap.ncbi.nlm.nih.gov/abouthapmap.html

Most of the common haplotypes occur in all human populations; however, their frequencies differ among populations. Therefore, data from several populations are needed to choose tag SNPs. Pilot studies have found sufficient differences in haplotype frequencies among population samples from Nigeria (Yoruba), Japan, China and the U.S. (residents with ancestry from Northern and Western Europe, collected in 1980 by the Centre d'Etude du Polymorphisme Humain (CEPH) and used for other human genetic maps) to warrant developing the HapMap with large-scale analysis of haplotypes in these populations. Samples from seven additional populations were also included: African ancestry in the southwestern USA (ASW); Chinese in metropolitan Denver, Colorado, USA (CHD); Gujarati Indians in Houston, Texas, USA (GIH); Luhya in Webuye, Kenya (LWK); Maasai in Kinyawa, Kenya (MKK); Mexican ancestry in Los Angeles, California, USA (MXL); and samples collected in Tuscany, Italy (TSI). The HapMap developed with information from these populations should be useful for all populations in the world. However, to assess how much more information would be gained by including other populations, a parallel study will examine haplotypes in a set of chromosome regions in samples from several additional populations.

Nature. 2010 Sep 2;467(7311):52-8. Integrating common and rare genetic variation in diverse human populations. International HapMap 3 Consortium,

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of <or=5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.

Genotype-informed estimation of risk of coronary heart disease based on genome-wide association data linked to the electronic medical record. Ding K, Bailey KR, Kullo IJ. BMC Cardiovasc Disord. 2011 Nov 3;11:66. Genome-wide association study of coronary artery disease. Ogawa N, Imai Y, Morita H, Nagai R. Int J Hypertens. 2010 Sep 21;2010:790539.

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( genetic map linkage map) =

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Scale: centiMorgans (cM) A centiMorgan is a unit of genetic distance that represents a 1% probability of recombination during meiosis. E.g., if two genes are 1 cM apart, there is a 1% chance they will break apart during meiosis. If two genes are 20 cM apart, there is a 20% chance they will break apart during meiosis. One cM is equivalent, on average, to a physical distance of approximately 1 megabase in the human genome. This is just an average because genetic recombination rates vary along different parts of the chromosomes.

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