HGDP-CEPH Human Genome Diversity Cell Line Panel

A resource of 1063 cultured lymphoblastoid cell lines (LCLs) from 1050 individuals in 51 world populations and corresponding milligram quantities of DNA is banked at the Foundation Jean Dausset-CEPH in Paris. These LCLs were collected from various laboratories by the Human Genome Diversity Project (HGDP) and CEPH in order to provide unlimited supplies of DNA for studies of sequence diversity and history of modern human populations. Information for each LCL is limited to sex of the individual and population and geographic origin.
The table provides details of the LCLs in the resource. LCLs from each of 25 population samples represent unrelated individuals (no closer than first cousins); 26 populations contain at least one of 96 pairs of first and/or second degree relatives (the table, column 3, "relatives"). Sixteen LCLs differ in gender indicated on records and that determined by molecular typing (see the table). All samples used for this resource were collected with proper informed consent.
The DNAs have been distributed to 102 investigators (as of 10 February 2009) for genotyping and/or resequencing; the results are contributed to a central database. To date, the DNAs have been typed genome wide with more than 650,000 SNPs and 853 microsatellites. In addition the DNAs have been typed for 10 known indel loci and for CNVs. Nuclear and mitochondrial DNA regions have been resequenced.

For more information contact , CEPH.

PUBLICATIONS ARISING FROM HGDP-CEPH HUMAN GENOME DIVERSITY PANEL

Cann HM et al (2002). A human genome diversity cell line panel. Science 296:261-262.

Rosenberg NA et al (2002). Genetic structure of human populations. Science 298:2381-2385.

Zhivotovski et al (2003). Features of evolution of modern humans, inferred from genomewide microsatellite markers. Am J. Hum. Genet. 72:1171-1186.

Shi M et al. (2003). Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2. Birth Defects Res Part A Clin Mol Teratol. 67:545-549.

Horton R. et al. (2003). Read all about it: The Lancet's Paper of the Year. Lancet. 362: 2101-3.

Rosenberg NA et al. (2003). Informativeness of genetic markers for inference of ancestry. Am J Hum Genet. 73:1402-22.

Zhivotovsy LA et al (2004). The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet 74:50-61.

Ramachandran S et al. (2004). Robustness of the inference of human population structure: A comparison of X-chromosomal and autosomal microsatellites. Hum Genomics 1: 87-97.

Bersaglieri T et al. (2004). Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet. 74:1111-1120. Epub 2004 Apr 26.

Evans W et al. (2004) The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett. 369:183-185.

Zucchero TM et al. (2004). Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med. 351:769-780.

Gonzalez-Neira A et al. (2004). Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22. Hum Genomics 1:399-409.

Serre D, Paabo S (2004). Evidence for gradients of human genetic diversity within and among continents. Genome Res.14:1679-85.

Macpherson JM. (2004). Demographic estimates from Y chromosome microsatellite polymorphisms: analysis of a worldwide sample. Hum Genomics. 5: 345-354.

Gonzalez E et al. (2005). The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science. 307:1434-1440. Epub 2005 Jan 6.

Cavalli-Sforza LL (2005). The Human Genome Diversity Project: past, present and future. Nat Rev Genet. 6: 333-40.

Ramachandran S et al (2005). Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc Natl Acad Sci U S A. 102:15942-7.

Rosenberg NA et al (2005). Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet. 1: 660-671

Ramirez-Soriano A (2005). Haplotype tagging efficiency in worldwide populations in CTLA4 gene. Genes Immun. 6: 646-57.

Barreiro LB et al. (2005). The heritage of pathogen pressures and ancient demography in the human innate-immunity CD209/CD209L Region. Am J Hum Genet. 77: 869-886.

Mekel-Bobrov N et al. (2005). Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science 309:1720-1722.

Gonzalez-Neira A et al (2006). The portability of tagSNPs across populations: a worldwide survey. Genome Res.16: 323-30.

Conrad DF et al (2006). A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet. 38: 1251-60.

Rosenberg NA et al (2006). Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives. Ann Hum Genet. 70: 841-7.

Rosenberg NA et al (2006). Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet. 2: 2052-2061.

Pereira RW et al (2006). A novel polymorphic Alu insetion imbedded in a LINE 1 retrotransposon in the human X chromosome (DXS225): identification and worldwide population study. Genet. Mol. Res. 5:63-71.

Lao O et al (2006). Proportioning whole-genome single-nucleotide polymorphism diversity for the identification of geographic population structure and genetic ancestry. Am J Hum Genet. 4: 680-690.

Bastos-Rodrigues L et al. (2006). The genetic structure of human populations studied through short insertion-deletion polymorphisms. Annals of Human Genetics 70:658-665.

Xue Y et al. (2006). Spread of an inactive form of caspase-12 in humans is due to recent positive selection. Am J of Hum Genet. 78:659-670.

Saunders M et al. (2006). Human adaptive evolution at myostatin (GDF8), a regulator of muscle growth. Am J Hum Genet. 79: 1089-1097.

Soldevila M et al. (2006). The prion protein gene in humans revisited: lessons from a worldwide resequencing study. Genome Res. 16:231-9.

Akey JM et al. (2006). TRPV6 exhibits unusual patterns of polymorphism and divergence in worldwide populations. Human Molecular Genetics. 15: 2106-2113.

Paisan-Ruiz P et al. (2006). Testing association between LRRK2 and Parkinson.s disease and investigating linkage disequilibrium. Journal of Medical Genetics 2006;43:e09; doi:10.1136/jmg.2005.036889.

Patterson, N et al. (2006).17194218 Genet. 2: 2074-2093.

Butty V et al (2007). Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes. Proc Natl Acad Sci U S A.104: 570-5.

Lao O et al (2007). Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. Ann Hum Genet. 71: 54-69.

Shimada MK et al (2007). Divergent Haplotypes and Human History as Revealed in a Worldwide Survey of X-Linked DNA Sequence Variation. Molecular Biology and Evolution 24:687-698.

Santos-Lopes SS et al (2007). A Worldwide Phylogeography for the Human X Chromosome. PLoS ONE 2(6): e557. doi:10.1371/journal.pone.0000557.

Kidd JM et al. (2007). Population stratification of a common gene deletion polymorphism. PLoS Genet. 3:584-592.

Nievergelt CM et al. (2007). Generalized analysis of molecular variance. PLoS Genet. 3: 467-478.

Martin MP et al.(2007). A mutation in KIR3DS1 that results in truncation and lack of cell surface expression. Immunogenetics 59: 823-829.

Graffelman J et al. (2007). Variation in estimated recombination rates across human populations. Hum Genet. 122:301-10. Epub 2007 Jul 3.

Sabeti PC et al. (2007). Genome-wide detection and chracterization of positive selection in human populations. Nature 449: 913-918.

Cavalli-Sforza LL. (2007). Human Evolution and Its Relevance for Genetic Epidemiology. Annual Review of Genomics and Human Genetics. doi:10.1146/annurev.genom.8.080706.092403

Manica A et al. (2007). The effect of ancient population bottlenecks on human phenotypic variation. Nature 448: 346-349.

Wang S et al. (2007). Genetic Variation and Population Structure in Native Americans. PLoS Genet. 3(11): e185 doi:10.1371.

Handley LJ et al. (2007). Going the distance: human population genetics in a clinal world. TRENDS in Genetics. 23: 432-438.

Lalueza-Fox C et al. (2007). A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals. Science 318: 1453-1454.

Balaresque P (2007). Challenges in human genetic diversity: demographic history and adaptation. Hum Mol Genet. 2007 16 Spec No. 2:R134-8.

Sistonen J et al. (2007) CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure. Pharmacogenet Genomics. 17: 93-101.

Perry GH et al. (2007). Diet and the evolution of human amylase gene copy number variation. Nat Genet. 39 :1256-60.

Friedlaender JS et al. (2008). The genetic structure of Pacific Islanders. PLoS Genet. 4(1): e19 doi:10.1371.

Serre D et al. (2008). Correction of population stratification in large multi-ethnic association association studies. PLoS One 2(1): e1382 doi: 10.1371.

Jakobsson M et al. (2008). Genotype, haplotype, and copy-number variation in worldwide human populations. Nature 451: 998-1003.

Li JZ et al. (2008). Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100-1104.

Xue Y et al. (2008). Adaptive evolution of UGT2B17 copy-number variation. Am J Hum Genet. 83: 337-346.

Myles S et al. (2008). Worldwide population differentiation at disease-associated SNPs. BMC Medical Genomics. 1: 22.

Colobran R et al. (2008). Population structure in copy number variation and SNPs in the CCL4L chemokine gene. Genes Immun. 9: 279-88.

Pemberton TJ et al. (2008). Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India. Annals of Human Genetics 72: 535-546.

Bierut LJ et al. (2008). Variants in the nicotinic receptors alter the risk for nicotinic dependence. Am J Psychiatry 165: 1163-1171.

Weijing He et al. (2008). Duffy Antigen Receptor for Chemokines Mediates trans-Infection of HIV-1 from Red Blood Cells to Target Cells and Affects HIV-AIDS Susceptibility. Cell Host & Microbe 4: 52.62.

I G Romero et al. (2008). How accurate is the current picture of human genetic variation ? Heredity 102: 120-126.

Bryk J et al. (2008). Positive Selection in East Asians for an EDAR Allele that Enhances NF-.B Activation. PLoS ONE 3(5): e2209 doi:10.1371/journal.pone.0002209.

Hillmer AM et al. (2008). Susceptibility variants for male pattern baldness on chromosome 20p11. Nature Genetics 40:1279-1281.

Ferrer-Admetlla A et al. (2008). Balancing selection is the main force shaping the evolution of innate immunity genes. J Immunol. 181: 1315-22.

Tarazona-Santos E et al. (2008). CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domains. Hum Mutat. 29: 623-32.

Wall JD et al. (2008). A novel DNA sequence database for analyzing human demographic history. Genome Res 18: 1354-1361.

Szpiech ZA et al. (2008). ADZE: a rarefaction approach for counting alleles private to combinations of populations. Bioinformatics 24: 2498-2504.

Balaresque P et al. (2008). Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis. Hum Mutat. 29:1171-80.

Karafet TM et al. (2008). New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res. 18: 830-838.

Tian C et al. (2008). Analysis of East Asia genetic substructure using genome-wide SNP arrays. PLoS ONE. 3: e3862. doi:10.1371.

Perry GH et al. (2008). Copy number variation and evolution in humans and chimpanzees. Genome Res. 18: 1698-1710, 2008.

Colobran R. (2008). Population structure in copy number variation and SNPs in the CCL4L chemokine gene. Genes Immun. 9: 279-88.

Dhandapany PS et al. (2009). A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet. 41:187-91.

Hofer T et al. (2009). Large Allele Frequency Differences between Human Continental Groups are more Likely to have Occurred by Drift During range Expansions than by Selection. Annals of Human Genetics 73: 95-108.

Fumagalli M et al. (2009). Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res. 19: 199-212.

Itsara A et al. (2009). Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 84: 148-161.

Yngvadottir, B et al. (2009). A Genome-wide Survey of the Prevalence and Evolutionary Forces Acting on Human Nonsense SNPs. Am J Hum Genet. 84: 224-234.

Huang L et al. (2009). Genotype-Imputation Accuracy across Worldwide Human Populations. Am J Hum Genet. 84: 235-250.

Auton A et al. (2009). Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Res. 19:795-803.

Pickerell JK et al. (2009). Signals of recent positive selection in a worldwide sample of human populations. Genome Res. 19: 826-37.

Tishkoff SA et al. (2009). The Genetic Structure and History of Africans and African Americans. Science 324: 1035-44.

Coop G et al. (2009). The Role of Geography in Human Adaptation. PLoS Genet 5(6): e1000500. doi:10.1371.

Price AL. et al. (2009). Sensitive detection of chromosomal segments of distinct ancestry in admixed populations. PLoS Genet. 5:e1000519. Epub 2009 Jun 19.

Shringarpure S, Xing EP. (2009). mStruct: inference of population structure in light of both genetic admixing and allele mutations. Genetics. 182: 575-93.

Bosch E et al. (2009). Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD. BMC Genomics. Jul 28;10:338.

Vermeulen M et al. (2009). Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms. Forensic Sci Int Genet. 3: 205-213.

Moreno-Estrada A. (2009). Interrogating 11 fast-evolving genes for signatures of recent positive selection in worldwide human populations. Mol Biol Evol. 26:2285-2297.

Kersbergen P et al. (2009). Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans. BMC Genet. Oct 27;10:69.

He M et al. (2009) Geographical affinities of the HapMap samples. PLoS ONE 4: e4684. doi:10.1371.

Reich D et al. (2009). Reconstructing Indian population history. Nature 461: 489-494.

Herraez, D et al. (2009). Genetic variation and recent positive selection in worldwide human populations: evidence from nearly 1 million SNPs. PLoS ONE 4: e7888. doi: 10.1371.

Xue Y et al. (2009). Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation. Genetics. 183: 1065-1077.

The HUGO Pan-Asian Consortium. (2009). Mapping human genetic diversity in Asia. Science 326: 1541-1545.

Xu S et al. (2009). Genomic dissection of population substructure of Han Chinese and its implication in association studies. Am. J. Hum. Genet. 85: 762-774.

Pemberton TJ et al. (2009). Sequence determinants of human microsatellite variability. BMC Genomics. Dec 16;10:612.

Patterson, N et al. (2010). Genetic structure of a unique admixed population: implications for medical research. Hum Mol Genet 19: 411-419.

Grossman SR et al. (2010). A composite of multiple signals distinguishes causal variants in regions of positive selection. Science 327: 883-886.

Shi W et al. (2010). A Worldwide Survey of Human Male Demographic History Based on Y-SNP and Y-STR Data from the HGDP-CEPH Populations. Mol. Biol. Evol. 27: 385-393.

For more information, please contact the

Last update : 1970-01-01


Home Contact Access map Publications HGDP - CEPH Project HGDP CEPH Diversity Panel HGDP CEPH Genotype Database Other Projects LD-Europe Database Cancer Genomics CEPH Genotype Database V10 Spondylarthropathies CEPH Généthon maps Projet Chronos Colorectal Cancer Human TERT locus Neurofibromatosis type 2 Bi-allelic inactivation of TCF1 CEPH Biobank
HGDP-CEPH Human Genome Diversity Cell Line Panel A resource of 1063 cultured lymphoblastoid cell lines (LCLs) from 1050 individuals in 51 world populations and corresponding milligram quantities of DNA is banked at the Foundation Jean Dausset-CEPH in Paris. These LCLs were collected from various laboratories by the Human Genome Diversity Project (HGDP) and CEPH in order to provide unlimited supplies of DNA for studies of sequence diversity and history of modern human populations. Information for each LCL is limited to sex of the individual and population and geographic origin. The table provides details of the LCLs in the resource. LCLs from each of 25 population samples represent unrelated individuals (no closer than first cousins); 26 populations contain at least one of 96 pairs of first and/or second degree relatives (the table, column 3, "relatives"). Sixteen LCLs differ in gender indicated on records and that determined by molecular typing (see the table). All samples used for this resource were collected with proper informed consent. The DNAs have been distributed to 102 investigators (as of 10 February 2009) for genotyping and/or resequencing; the results are contributed to a central database. To date, the DNAs have been typed genome wide with more than 650,000 SNPs and 853 microsatellites. In addition the DNAs have been typed for 10 known indel loci and for CNVs. Nuclear and mitochondrial DNA regions have been resequenced. For more information contact , CEPH. PUBLICATIONS ARISING FROM HGDP-CEPH HUMAN GENOME DIVERSITY PANEL Cann HM et al (2002). A human genome diversity cell line panel. Science 296:261-262. Rosenberg NA et al (2002). Genetic structure of human populations. Science 298:2381-2385. Zhivotovski et al (2003). Features of evolution of modern humans, inferred from genomewide microsatellite markers. Am J. Hum. Genet. 72:1171-1186. Shi M et al. (2003). Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2. Birth Defects Res Part A Clin Mol Teratol. 67:545-549. Horton R. et al. (2003). Read all about it: The Lancet's Paper of the Year. Lancet. 362: 2101-3. Rosenberg NA et al. (2003). Informativeness of genetic markers for inference of ancestry. Am J Hum Genet. 73:1402-22. Zhivotovsy LA et al (2004). The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet 74:50-61. Ramachandran S et al. (2004). Robustness of the inference of human population structure: A comparison of X-chromosomal and autosomal microsatellites. Hum Genomics 1: 87-97. Bersaglieri T et al. (2004). Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet. 74:1111-1120. Epub 2004 Apr 26. Evans W et al. (2004) The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett. 369:183-185. Zucchero TM et al. (2004). Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med. 351:769-780. Gonzalez-Neira A et al. (2004). Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22. Hum Genomics 1:399-409. Serre D, Paabo S (2004). Evidence for gradients of human genetic diversity within and among continents. Genome Res.14:1679-85. Macpherson JM. (2004). Demographic estimates from Y chromosome microsatellite polymorphisms: analysis of a worldwide sample. Hum Genomics. 5: 345-354. Gonzalez E et al. (2005). The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science. 307:1434-1440. Epub 2005 Jan 6. Cavalli-Sforza LL (2005). The Human Genome Diversity Project: past, present and future. Nat Rev Genet. 6: 333-40. Ramachandran S et al (2005). Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc Natl Acad Sci U S A. 102:15942-7. Rosenberg NA et al (2005). Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet. 1: 660-671 Ramirez-Soriano A (2005). Haplotype tagging efficiency in worldwide populations in CTLA4 gene. Genes Immun. 6: 646-57. Barreiro LB et al. (2005). The heritage of pathogen pressures and ancient demography in the human innate-immunity CD209/CD209L Region. Am J Hum Genet. 77: 869-886. Mekel-Bobrov N et al. (2005). Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science 309:1720-1722. Gonzalez-Neira A et al (2006). The portability of tagSNPs across populations: a worldwide survey. Genome Res.16: 323-30. Conrad DF et al (2006). A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet. 38: 1251-60. Rosenberg NA et al (2006). Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives. Ann Hum Genet. 70: 841-7. Rosenberg NA et al (2006). Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet. 2: 2052-2061. Pereira RW et al (2006). A novel polymorphic Alu insetion imbedded in a LINE 1 retrotransposon in the human X chromosome (DXS225): identification and worldwide population study. Genet. Mol. Res. 5:63-71. Lao O et al (2006). Proportioning whole-genome single-nucleotide polymorphism diversity for the identification of geographic population structure and genetic ancestry. Am J Hum Genet. 4: 680-690. Bastos-Rodrigues L et al. (2006). The genetic structure of human populations studied through short insertion-deletion polymorphisms. Annals of Human Genetics 70:658-665. Xue Y et al. (2006). Spread of an inactive form of caspase-12 in humans is due to recent positive selection. Am J of Hum Genet. 78:659-670. Saunders M et al. (2006). Human adaptive evolution at myostatin (GDF8), a regulator of muscle growth. Am J Hum Genet. 79: 1089-1097. Soldevila M et al. (2006). The prion protein gene in humans revisited: lessons from a worldwide resequencing study. Genome Res. 16:231-9. Akey JM et al. (2006). TRPV6 exhibits unusual patterns of polymorphism and divergence in worldwide populations. Human Molecular Genetics. 15: 2106-2113. Paisan-Ruiz P et al. (2006). Testing association between LRRK2 and Parkinson.s disease and investigating linkage disequilibrium. Journal of Medical Genetics 2006;43:e09; doi:10.1136/jmg.2005.036889. Patterson, N et al. (2006).17194218 Genet. 2: 2074-2093. Butty V et al (2007). Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes. Proc Natl Acad Sci U S A.104: 570-5. Lao O et al (2007). Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. Ann Hum Genet. 71: 54-69. Shimada MK et al (2007). Divergent Haplotypes and Human History as Revealed in a Worldwide Survey of X-Linked DNA Sequence Variation. Molecular Biology and Evolution 24:687-698. Santos-Lopes SS et al (2007). A Worldwide Phylogeography for the Human X Chromosome. PLoS ONE 2(6): e557. doi:10.1371/journal.pone.0000557. Kidd JM et al. (2007). Population stratification of a common gene deletion polymorphism. PLoS Genet. 3:584-592. Nievergelt CM et al. (2007). Generalized analysis of molecular variance. PLoS Genet. 3: 467-478. Martin MP et al.(2007). A mutation in KIR3DS1 that results in truncation and lack of cell surface expression. Immunogenetics 59: 823-829. Graffelman J et al. (2007). Variation in estimated recombination rates across human populations. Hum Genet. 122:301-10. Epub 2007 Jul 3. Sabeti PC et al. (2007). Genome-wide detection and chracterization of positive selection in human populations. Nature 449: 913-918. Cavalli-Sforza LL. (2007). Human Evolution and Its Relevance for Genetic Epidemiology. Annual Review of Genomics and Human Genetics. doi:10.1146/annurev.genom.8.080706.092403 Manica A et al. (2007). The effect of ancient population bottlenecks on human phenotypic variation. Nature 448: 346-349. Wang S et al. (2007). Genetic Variation and Population Structure in Native Americans. PLoS Genet. 3(11): e185 doi:10.1371. Handley LJ et al. (2007). Going the distance: human population genetics in a clinal world. TRENDS in Genetics. 23: 432-438. Lalueza-Fox C et al. (2007). A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals. Science 318: 1453-1454. Balaresque P (2007). Challenges in human genetic diversity: demographic history and adaptation. Hum Mol Genet. 2007 16 Spec No. 2:R134-8. Sistonen J et al. (2007) CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure. Pharmacogenet Genomics. 17: 93-101. Perry GH et al. (2007). Diet and the evolution of human amylase gene copy number variation. Nat Genet. 39 :1256-60. Friedlaender JS et al. (2008). The genetic structure of Pacific Islanders. PLoS Genet. 4(1): e19 doi:10.1371. Serre D et al. (2008). Correction of population stratification in large multi-ethnic association association studies. PLoS One 2(1): e1382 doi: 10.1371. Jakobsson M et al. (2008). Genotype, haplotype, and copy-number variation in worldwide human populations. Nature 451: 998-1003. Li JZ et al. (2008). Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100-1104. Xue Y et al. (2008). Adaptive evolution of UGT2B17 copy-number variation. Am J Hum Genet. 83: 337-346. Myles S et al. (2008). Worldwide population differentiation at disease-associated SNPs. BMC Medical Genomics. 1: 22. Colobran R et al. (2008). Population structure in copy number variation and SNPs in the CCL4L chemokine gene. Genes Immun. 9: 279-88. Pemberton TJ et al. (2008). Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India. Annals of Human Genetics 72: 535-546. Bierut LJ et al. (2008). Variants in the nicotinic receptors alter the risk for nicotinic dependence. Am J Psychiatry 165: 1163-1171. Weijing He et al. (2008). Duffy Antigen Receptor for Chemokines Mediates trans-Infection of HIV-1 from Red Blood Cells to Target Cells and Affects HIV-AIDS Susceptibility. Cell Host & Microbe 4: 52.62. I G Romero et al. (2008). How accurate is the current picture of human genetic variation ? Heredity 102: 120-126. Bryk J et al. (2008). Positive Selection in East Asians for an EDAR Allele that Enhances NF-.B Activation. PLoS ONE 3(5): e2209 doi:10.1371/journal.pone.0002209. Hillmer AM et al. (2008). Susceptibility variants for male pattern baldness on chromosome 20p11. Nature Genetics 40:1279-1281. Ferrer-Admetlla A et al. (2008). Balancing selection is the main force shaping the evolution of innate immunity genes. J Immunol. 181: 1315-22. Tarazona-Santos E et al. (2008). CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domains. Hum Mutat. 29: 623-32. Wall JD et al. (2008). A novel DNA sequence database for analyzing human demographic history. Genome Res 18: 1354-1361. Szpiech ZA et al. (2008). ADZE: a rarefaction approach for counting alleles private to combinations of populations. Bioinformatics 24: 2498-2504. Balaresque P et al. (2008). Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis. Hum Mutat. 29:1171-80. Karafet TM et al. (2008). New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res. 18: 830-838. Tian C et al. (2008). Analysis of East Asia genetic substructure using genome-wide SNP arrays. PLoS ONE. 3: e3862. doi:10.1371. Perry GH et al. (2008). Copy number variation and evolution in humans and chimpanzees. Genome Res. 18: 1698-1710, 2008. Colobran R. (2008). Population structure in copy number variation and SNPs in the CCL4L chemokine gene. Genes Immun. 9: 279-88. Dhandapany PS et al. (2009). A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet. 41:187-91. Hofer T et al. (2009). Large Allele Frequency Differences between Human Continental Groups are more Likely to have Occurred by Drift During range Expansions than by Selection. Annals of Human Genetics 73: 95-108. Fumagalli M et al. (2009). Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res. 19: 199-212. Itsara A et al. (2009). Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 84: 148-161. Yngvadottir, B et al. (2009). A Genome-wide Survey of the Prevalence and Evolutionary Forces Acting on Human Nonsense SNPs. Am J Hum Genet. 84: 224-234. Huang L et al. (2009). Genotype-Imputation Accuracy across Worldwide Human Populations. Am J Hum Genet. 84: 235-250. Auton A et al. (2009). Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Res. 19:795-803. Pickerell JK et al. (2009). Signals of recent positive selection in a worldwide sample of human populations. Genome Res. 19: 826-37. Tishkoff SA et al. (2009). The Genetic Structure and History of Africans and African Americans. Science 324: 1035-44. Coop G et al. (2009). The Role of Geography in Human Adaptation. PLoS Genet 5(6): e1000500. doi:10.1371. Price AL. et al. (2009). 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