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 52 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, de Toma C, Cazes L, Legrand MF, Morel V, Piouffre L, Bodmer J, Bodmer WF, Bonne-Tamir B, Cambon-Thomsen A, Chen Z, Chu J, Carcassi C, Contu L, Du R, Excoffier L, Ferrara GB, Friedlaender JS, Groot H, Gurwitz D, Jenkins T, Herrera RJ, Huang X, Kidd J, Kidd KK, Langaney A, Lin AA, Mehdi SQ, Parham P, Piazza A, Pistillo MP, Qian Y, Shu Q, Xu J, Zhu S, Weber JL, Greely HT, Feldman MW, Thomas G, Dausset J, Cavalli-Sforza LL. (2002). A human genome diversity cell line panel. Science 296:261-262.  

Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. (2002). Genetic structure of human populations. Science 298:2381-2385.  

Zhivotovsky LA, Rosenberg NA, Feldman MW. (2003). Features of evolution of modern humans, inferred from genomewide microsatellite markers. Am J. Hum. Genet. 72:1171-1186.

Shi M, Caprau D, Romitti P, Christensen K, Murray JC. (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, Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. (2003). Read all about it: The Lancet's Paper of the Year. Lancet. 362: 2101-3.

Rosenberg NA, Li LM, Ward R, Pritchard JK. (2003). Informativeness of genetic markers for inference of ancestry. Am J Hum Genet. 73:1402-22.

Zhivotovsky LA, Underhill PA, Cinnio.lu C, Kayser M, Morar B, Kivisild T, Scozzari R, Cruciani F, Destro-Bisol G, Spedini G, Chambers GK, Herrera RJ, Yong KK, Gresham D, Tournev I, Feldman MW, Kalaydjieva L (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, Rosenberg NA, Zhivotovsky LA, Feldman MW. (2004). Robustness of the inference of human population structure: A comparison of X-chromosomal and autosomal microsatellites. Hum Genomics 1: 87-97.

Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN. (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, Fung HC, Steele J, Eerola J, Tienari P, Pittman A, Silva R, Myers A, Vrieze FW, Singleton A, Hardy J. (2004) The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett. 369:183-185.

Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. (2004). Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med. 351:769-780.

González-Neira A, Calafell F, Navarro A, Lao O, Cann H, Comas D, Bertranpetit J. (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, Ramachandran S, Diamond L, Feldman MW. Demographic estimates from Y chromosome microsatellite polymorphisms: analysis of a worldwide sample. Hum Genomics. 2004 Aug;1(5):345-54.

Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK. (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, Deshpande O, Roseman CC, Rosenberg NA, Feldman MW, Cavalli-Sforza LL. (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, Mahajan S, Ramachandran S, Zhao C, Pritchard JK, Feldman MW. (2005). Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet. 1: 660-671

Ramírez-Soriano A, Lao O, Soldevila M, Calafell F, Bertranpetit J, Comas D. (2005). Haplotype tagging efficiency in worldwide populations in CTLA4 gene. Genes Immun. 6: 646-57.

Barreiro LB, Patin E, Neyrolles O, Cann HM, Gicquel B, Quintana-Murci L. (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.

González-Neira A, Ke X, Lao O, Calafell F, Navarro A, Comas D, Cann H, Bumpstead S, Ghori J, Hunt S, Deloukas P, Dunham I, Cardon LR, Bertranpetit J. (2006). The portability of tagSNPs across populations: a worldwide survey. Genome Res.16: 323-30.

Barnholtz-Sloan JS, Pfaff CL, Chakraborty R, Long JC. Informativeness of the CODIS STR loci for admixture analysis. J Forensic Sci. 2005 Nov;50(6):1322-6.

Conrad DF, Jakobsson M, Coop G, Wen X, Wall JD, Rosenberg NA, Pritchard JK. (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, Mahajan S, Gonzalez-Quevedo C, Blum MG, Nino-Rosales L, Ninis V, Das P, Hegde M, Molinari L, Zapata G, Weber JL, Belmont JW, Patel PI. (2006). Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet. 2: 2052-2061.

Pereira RW, Santos SS, Pena SD. (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, van Duijn K, Kersbergen P, de Knijff P, Kayser M. (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, Pimenta JR, Pena SD. (2006). The genetic structure of human populations studied through short insertion-deletion polymorphisms. Annals of Human Genetics 70:658-665.

Xue Y, Daly A, Yngvadottir B, Liu M, Coop G, Kim Y, Sabeti P, Chen Y, Stalker J, Huckle E, Burton J, Leonard S, Rogers J, Tyler-Smith C. (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 MA, Good JM, Lawrence EC, Ferrell RE, Li WH, Nachman MW. (2006). Human adaptive evolution at myostatin (GDF8), a regulator of muscle growth. Am J Hum Genet. 79: 1089-1097.

Soldevila M, Andrés AM, Ramírez-Soriano A, Marquès-Bonet T, Calafell F, Navarro A, Bertranpetit J. (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, Roy M, Sabeti P, Besse W, Benoist C, Mathis D. (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, de Gruijter JM, van Duijn K, Navarro A, Kayser M. (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, Panchapakesan K, Tishkoff SA, Nato AQ Jr, Hey J. (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, Pereira RW, Wilson IJ, Pena SD. (2007). A Worldwide Phylogeography for the Human X Chromosome. PLoS ONE 2(6): e557. doi:10.1371/journal.pone.0000557.

Kidd JM, Newman TL, Tuzun E, Kaul R, Eichler EE. (2007). Population stratification of a common gene deletion polymorphism. PLoS Genet. 3:584-592.

Nievergelt CM, Libiger O, Schork NJ. (2007). Generalized analysis of molecular variance. PLoS Genet. 3: 467-478.

Martin MP, Pascal V, Yeager M, Phair J, Kirk GD, Hoots K, O'brien SJ, Anderson SK, Carrington M. (2007). A mutation in KIR3DS1 that results in truncation and lack of cell surface expression. Immunogenetics 59: 823-829.

Graffelman J, Balding DJ, Gonzalez-Neira A, Bertranpetit J. (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. Human Evolution and its relevance for genetic epidemiology. Annu Rev Genomics Hum Genet. 2007;8:1-15.

Manica A, Amos W, Balloux F, Hanihara T. (2007). The effect of ancient population bottlenecks on human phenotypic variation. Nature 448: 346-349.

Wang S, Lewis CM, Jakobsson M, Ramachandran S, Ray N, Bedoya G, Rojas W, Parra MV, Molina JA, Gallo C, Mazzotti G, Poletti G, Hill K, Hurtado AM, Labuda D, Klitz W, Barrantes R, Bortolini MC, Salzano FM, Petzl-Erler ML, Tsuneto LT, Llop E, Rothhammer F, Excoffier L, Feldman MW, Rosenberg NA, Ruiz-Linares A. (2007). Genetic Variation and Population Structure in Native Americans. PLoS Genet. 3(11): e185 doi:10.1371.

Handley LJ, Manica A, Goudet J, Balloux F. (2007). Going the distance: human population genetics in a clinal world. TRENDS in Genetics. 23: 432-438.

Lalueza-Fox C, Römpler H, Caramelli D, Stäubert C, Catalano G, Hughes D, Rohland N, Pilli E, Longo L, Condemi S, de la Rasilla M, Fortea J, Rosas A, Stoneking M, Schöneberg T, Bertranpetit J, Hofreiter M. (2007). A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals. Science 318: 1453-1454.

Balaresque PL, Ballereau SJ, Jobling MA. (2007). Challenges in human genetic diversity: demographic history and adaptation. Hum Mol Genet. 2007 16 Spec No. 2:R134-8.

Sistonen J, Sajantila A, Lao O, Corander J, Barbujani G, Fuselli S. (2007) CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure. Pharmacogenet Genomics. 17: 93-101.

Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, Werner J, Villanea FA, Mountain JL, Misra R, Carter NP, Lee C, Stone AC. (2007). Diet and the evolution of human amylase gene copy number variation. Nat Genet. 39 :1256-60.

Tibayrenc M. Human genetic diversity and the epidemiology of parasitic and other transmissible diseases. Adv Parasitol. 2007;64:377-422.

Friedlaender JS, Friedlaender FR, Reed FA, Kidd KK, Kidd JR, Chambers GK, Lea RA, Loo JH, Koki G, Hodgson JA, Merriwether DA, Weber JL. (2008). The genetic structure of Pacific Islanders. PLoS Genet. 4(1): e19 doi:10.1371.

Serre D, Montpetit A, Paré G, Engert JC, Yusuf S, Keavney B, Hudson TJ, Anand S. (2008). Correction of population stratification in large multi-ethnic association association studies. PLoS One 2(1): e1382 doi: 10.1371.

Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB. (2008). Genotype, haplotype, and copy-number variation in worldwide human populations. Nature 451: 998-1003.

Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, Cann HM, Barsh GS, Feldman M, Cavalli-Sforza LL, Myers RM. (2008). Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100-1104.

Xue Y, Sun D, Daly A, Yang F, Zhou X, Zhao M, Huang N, Zerjal T, Lee C, Carter NP, Hurles ME, Tyler-Smith C. (2008). Adaptive evolution of UGT2B17 copy-number variation. Am J Hum Genet. 83: 337-346.

Myles S, Davison D, Barrett J, Stoneking M, Timpson N. (2008). Worldwide population differentiation at disease-associated SNPs. BMC Medical Genomics. 1: 22.

Colobran R, Comas D, Faner R, Pedrosa E, Anglada R, Pujol-Borrell R, Bertranpetit J, Juan M. (2008). Population structure in copy number variation and SNPs in the CCL4L chemokine gene. Genes Immun. 9: 279-88.

Pemberton TJ, Jakobsson M, Conrad DF, Coop G, Wall JD, Pritchard JK, Patel PI, Rosenberg NA. (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, Stitzel JA, Wang JC, Hinrichs AL, Grucza RA, Xuei X, Saccone NL, Saccone SF, Bertelsen S, Fox L, Horton WJ, Breslau N, Budde J, Cloninger CR, Dick DM, Foroud T, Hatsukami D, Hesselbrock V, Johnson EO, Kramer J, Kuperman S, Madden PA, Mayo K, Nurnberger J Jr, Pomerleau O, Porjesz B, Reyes O, Schuckit M, Swan G, Tischfield JA, Edenberg HJ, Rice JP, Goate AM. (2008). Variants in the nicotinic receptors alter the risk for nicotinic dependence. Am J Psychiatry 165: 1163-1171.

He W, Neil S, Kulkarni H, Wright E, Agan BK, Marconi VC, Dolan MJ, Weiss RA, Ahuja SK. (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.

Bryk J, Hardouin E, Pugach I, Hughes D, Strotmann R, Stoneking M, Myles S. 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, Brockschmidt FF, Hanneken S, Eigelshoven S, Steffens M, Flaquer A, Herms S, Becker T, Kortüm AK, Nyholt DR, Zhao ZZ, Montgomery GW, Martin NG, Mühleisen TW, Alblas MA, Moebus S, Jöckel KH, Bröcker-Preuss M, Erbel R, Reinartz R, Betz RC, Cichon S, Propping P, Baur MP, Wienker TF, Kruse R, Nöthen MM. (2008). Susceptibility variants for male pattern baldness on chromosome 20p11. Nature Genetics 40:1279-1281.

Ferrer-Admetlla A, Bosch E, Sikora M, Marquès-Bonet T, Ramírez-Soriano A, Muntasell A, Navarro A, Lazarus R, Calafell F, Bertranpetit J, Casals F. (2008). Balancing selection is the main force shaping the evolution of innate immunity genes. J Immunol. 181: 1315-22.

Tarazona-Santos E, Bernig T, Burdett L, Magalhaes WC, Fabbri C, Liao J, Redondo RA, Welch R, Yeager M, Chanock SJ. (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, Cox MP, Mendez FL, Woerner A, Severson T, Hammer MF. (2008). A novel DNA sequence database for analyzing human demographic history. Genome Res 18: 1354-1361.

Szpiech ZA, Jakobsson M, Rosenberg NA. (2008). ADZE: a rarefaction approach for counting alleles private to combinations of populations. Bioinformatics 24: 2498-2504.

Balaresque P, Bowden GR, Parkin EJ, Omran GA, Heyer E, Quintana-Murci L, Roewer L, Stoneking M, Nasidze I, Carvalho-Silva DR, Tyler-Smith C, de Knijff P, Jobling MA. (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, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF. (2008). New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res. 18: 830-838.

Tian C, Kosoy R, Lee A, Ransom M, Belmont JW, Gregersen PK, Seldin MF. (2008). Analysis of East Asia genetic substructure using genome-wide SNP arrays. PLoS ONE. 3: e3862. doi:10.1371.

Perry GH, Yang F, Marques-Bonet T, Murphy C, Fitzgerald T, Lee AS, Hyland C, Stone AC, Hurles ME, Tyler-Smith C, Eichler EE, Carter NP, Lee C, Redon R. (2008). Copy number variation and evolution in humans and chimpanzees. Genome Res. 18: 1698-1710, 2008.

Colobran R, Adreani P, Ashhab Y, Llano A, Esté JA, Dominguez O, Pujol-Borrell R, Juan M. (2008). Population structure in copy number variation and SNPs in the CCL4L chemokine gene. Genes Immun. 9: 279-88.

He W, Neil S, Kulkarni H, Wright E, Agan BK, Marconi VC, Dolan MJ, Weiss RA, Ahuja SK. (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.  

Xu S, Jin L. A genome-wide analysis of admixture in Uyghurs and a high-density admixture map for disease-gene discovery. Am J Hum Genet. 2008 Sep;83(3):322-36.

Dhandapany PS, Sadayappan S, Xue Y, Powell GT, Rani DS, Nallari P, Rai TS, Khullar M, Soares P, Bahl A, Tharkan JM, Vaideeswar P, Rathinavel A, Narasimhan C, Ayapati DR, Ayub Q, Mehdi SQ, Oppenheimer S, Richards MB, Price AL, Patterson N, Reich D, Singh L, Tyler-Smith C, Thangaraj K. (2009). A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nat Genet. 41:187-91.

Hofer T, Ray N, Wegmann D, Excoffier L. (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, Cagliani R, Pozzoli U, Riva S, Comi GP, Menozzi G, Bresolin N, Sironi M. (2009). Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res. 19: 199-212.

Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. (2009). Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 84: 148-161.

Yngvadottir B, Xue Y, Searle S, Hunt S, Delgado M, Morrison J, Whittaker P, Deloukas P, Tyler-Smith C. (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, Li Y, Singleton AB, Hardy JA, Abecasis G, Rosenberg NA, Scheet P. (2009). Genotype-Imputation Accuracy across Worldwide Human Populations. Am J Hum Genet. 84: 235-250.

Auton A, Bryc K, Boyko AR, Lohmueller KE, Novembre J, Reynolds A, Indap A, Wright MH, Degenhardt JD, Gutenkunst RN, King KS, Nelson MR, Bustamante CD. (2009). Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Res. 19:795-803.

Pickrell JK, Coop G, Novembre J, Kudaravalli S, Li JZ, Absher D, Srinivasan BS, Barsh GS, Myers RM, Feldman MW, Pritchard JK. (2009). Signals of recent positive selection in a worldwide sample of human populations. Genome Res. 19: 826-37.

Tishkoff SA, Reed FA, Friedlaender FR, Ehret C, Ranciaro A, Froment A, Hirbo JB, Awomoyi AA, Bodo JM, Doumbo O, Ibrahim M, Juma AT, Kotze MJ, Lema G, Moore JH, Mortensen H, Nyambo TB, Omar SA, Powell K, Pretorius GS, Smith MW, Thera MA, Wambebe C, Weber JL, Williams SM. (2009). The Genetic Structure and History of Africans and African Americans. Science 324: 1035-44.

Coop G, Pickrell JK, Novembre J, Kudaravalli S, Li J, Absher D, Myers RM, Cavalli-Sforza LL, Feldman MW, Pritchard JK. (2009). The Role of Geography in Human Adaptation. PLoS Genet 5(6): e1000500. doi:10.1371.

Price AL, Tandon A, Patterson N, Barnes KC, Rafaels N, Ruczinski I, Beaty TH, Mathias R, Reich D, Myers S. (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, Laayouni H, Morcillo-Suarez C, Casals F, Moreno-Estrada A, Ferrer-Admetlla A, Gardner M, Rosa A, Navarro A, Comas D, Graffelman J, Calafell F, Bertranpetit J. (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, Wollstein A, van der Gaag K, Lao O, Xue Y, Wang Q, Roewer L, Knoblauch H, Tyler-Smith C, de Knijff P, Kayser M. (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, Tang K, Sikora M, Marquès-Bonet T, Casals F, Navarro A, Calafell F, Bertranpetit J, Stoneking M, Bosch E. (2009). Interrogating 11 fast-evolving genes for signatures of recent positive selection in worldwide human populations. Mol Biol Evol. 26:2285-2297.

Kersbergen P, van Duijn K, Kloosterman AD, den Dunnen JT, Kayser M, de Knijff P. (2009). Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans. BMC Genet. Oct 27;10:69.

He M, Gitschier J, Zerjal T, de Knijff P, Tyler-Smith C, Xue Y. (2009) Geographical affinities of the HapMap samples. PLoS ONE 4: e4684. doi:10.1371.

Reich D, Thangaraj K, Patterson N, Price AL, Singh L. (2009). Reconstructing Indian population history. Nature 461: 489-494.

López Herráez D, Bauchet M, Tang K, Theunert C, Pugach I, Li J, Nandineni MR, Gross A, Scholz M, Stoneking M. (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, Zhang X, Huang N, Daly A, Gillson CJ, Macarthur DG, Yngvadottir B, Nica AC, Woodwark C, Chen Y, Conrad DF, Ayub Q, Mehdi SQ, Li P, Tyler-Smith C. (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, Yin X, Li S, Jin W, Lou H, Yang L, Gong X, Wang H, Shen Y, Pan X, He Y, Yang Y, Wang Y, Fu W, An Y, Wang J, Tan J, Qian J, Chen X, Zhang X, Sun Y, Zhang X, Wu B, Jin L. (2009). Genomic dissection of population substructure of Han Chinese and its implication in association studies. Am. J. Hum. Genet. 85: 762-774.

Pemberton TJ, Sandefur CI, Jakobsson M, Rosenberg NA. (2009) Sequence determinants of human microsatellite variability. BMC Genomics. 2009 Dec 16;10:612.

Romero IG, Manica A, Goudet J, Handley LL, Balloux F. (2009) How accurate is the current picture of human genetic variation? Heredity. 2009 Feb;102(2):120-6.

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