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A second generation human haplotype map of over 3.1 million SNPs
Open accessAbstract
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.
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“The fine-scale pattern of LD in humans confirms that the human genome is comprised of haplotype blocks within which most or all SNPs are in high LD21.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [21]
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“The second generation HapMap published recently characterized 3.1 million SNPs in the same group of individuals21.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [21]
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“that the number of inferred ancestral recombination events per genomic window agrees with a previously published population recombination map (17) (fig. S20B; Spearman’s rho = 0.46; P < 2.2 × 10−16), as expected.”
From An ancestral recombination graph of human, Neanderthal, and Denisovan genomes (2021) · cites this paper as [17]
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“As expected, the tag SNP allele frequencies in our samples mirrored previously described distributions in major geographic groups (Lamason et al. 2005;Yuasa et al. 2006;Frazer et al. 2007;Miller et al. 2007;Norton et al. 2007;Soejima and Koda 2007) (table 1).”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Frazer et al. 2007
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“Haplotype blocks vary somewhat among human populations — they tend to be somewhat shorter in African populations15,20,21.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [21]
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“Previous studies using several population samples from different continents have shown that, unlike SLC45A2, derived alleles at SLC24A5, TYRP1, and KITLG are present at low frequencies in some sub-Saharan populations (table 1, see also Yuasa et al. 2006;Frazer et al. 2007;Norton et al. 2007;Soejima and Koda 2007;Coop et al. 2009;Pickrell et al. 2009).”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Frazer et al. 2007
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Self-citation
Metadata
- Authors
- The International HapMap Consortium
- Venue
- Nature
- Published
- 2007-10
- Volume
- 449
- Issue
- 7164
- Pages
- 851-861
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2689609
- OpenAlex
- W2119279196
- Cited by
- 4,438
- References
- 60
- Citations by year
- 2026: 53 · 2025: 67 · 2024: 77 · 2023: 71 · 2022: 114 · 2021: 129 · 2020: 111 · 2019: 133 · 2018: 150 · 2017: 153 · 2016: 162 · 2015: 232 · 2014: 275 · 2013: 317 · 2012: 412
- FWCI
- 270.06
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- Deep Blue (University of Michigan) (submittedVersion)
- Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- Funders
- W. M. Keck Foundation
- Genome Canada
- Wellcome Trust (081682, 077011, 077008, 077046)
- Ministry of Education, Culture, Sports, Science and Technology
- National Natural Science Foundation of China
- University Grants Committee
- Chinese Academy of Sciences
- Beijing Normal University
- Ministry of Science and Technology of the People's Republic of China
- Innovation and Technology Commission
- National Institutes of Health
- Engineering and Physical Sciences Research Council
- National Institute on Alcohol Abuse and Alcoholism
- National Institute on Aging
- National Institute of Mental Health
- National Institute on Drug Abuse
- National Human Genome Research Institute
- National Eye Institute
- National Cancer Institute
- National Institute on Deafness and Other Communication Disorders
- National Institute of General Medical Sciences
- National Institute of Allergy and Infectious Diseases
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Institute of Neurological Disorders and Stroke
- National Institute of Environmental Health Sciences
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- National Institute of Biomedical Imaging and Bioengineering
- National Institute of Dental and Craniofacial Research
- National Center for Research Resources
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- single nucleotide polymorphisms, linkage disequilibrium, SNP genotyping, imputation, recombination hotspots, recombination rate, genetic differentiation, natural selection, non-synonymous SNPs, genetic ancestry, genome-wide association study, Lassa virus, skin pigmentation, hair follicle development
- MeSH terms
- Female, Haplotypes, Homozygote, Humans, Male, Recombination, Genetic, Selection, Genetic, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Racial Groups
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