Altshuler D.M.

Gibbs R.A.

Peltonen L.

Altshuler D.M.

Gibbs R.A.

Peltonen L.

Dermitzakis E.

Schaffner S.F.

Yu F.

Peltonen L.

et al.

International HapMap 3 Consortium Integrating common and rare genetic variation in diverse human populations. Nature. 467 : 52-58 View in Article Scopus (1697)

PubMed

Crossref

Google Scholar

Basu Mallick C.

Iliescu F.M.

Möls M.

Hill S.

Tamang R.

Chaubey G.

Goto R.

Ho S.Y.W.

Gallego Romero I.

Crivellaro F.

et al. The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent. PLoS Genet. 9 : e1003912 View in Article Scopus (54)

PubMed

Crossref

Google Scholar

Beleza S.

Johnson N.A.

Candille S.I.

Absher D.M.

Coram M.A.

Lopes J.

Campos J.

Araújo I.I.

Anderson T.M.

Vilhjálmsson B.J.

et al. Genetic architecture of skin and eye color in an African-European admixed population. PLoS Genet. 9 : e1003372 View in Article Scopus (64)

PubMed

Crossref

Google Scholar

Candille S.I.

Absher D.M.

Beleza S.

Bauchet M.

McEvoy B.

Garrison N.A.

Li J.Z.

Myers R.M.

Barsh G.S.

Tang H.

Shriver M.D. Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. PLoS ONE. 7 : e48294 View in Article Scopus (57)

PubMed

Crossref

Google Scholar

Carlson C.S.

Matise T.C.

North K.E.

Haiman C.A.

Fesinmeyer M.D.

Buyske S.

Schumacher F.R.

Peters U.

Franceschini N.

Ritchie M.D.

et al.

PAGE Consortium Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study. PLoS Biol. 11 : e1001661 View in Article Scopus (110)

PubMed

Crossref

Google Scholar

Chen E.Y.

Tan C.M.

Kou Y.

Duan Q.

Wang Z.

Meirelles G.V.

Clark N.R.

Ma’ayan A. Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool. BMC Bioinformatics. 14 : 128 View in Article Scopus (1334)

PubMed

Crossref

Google Scholar

Coussens A.K.

Naude C.E.

Goliath R.

Chaplin G.

Wilkinson R.J.

Jablonski N.G. High-dose vitamin D3 reduces deficiency caused by low UVB exposure and limits HIV-1 replication in urban Southern Africans. Proc. Natl. Acad. Sci. USA. 112 : 8052-8057 View in Article Scopus (34)

PubMed

Crossref

Google Scholar

Crawford N.G.

Kelly D.E.

Hansen M.E.B.

Beltrame M.H.

Fan S.

Bowman S.L.

Jewett E.

Ranciaro A.

Thompson S.

Lo Y.

et al. Loci associated with skin pigmentation identified in African populations. Science. 358 : 867-887 View in Article Scopus (89)

PubMed

Crossref

Google Scholar

Duan S.

Huang R.S.

Zhang W.

Mi S.

Bleibel W.K.

Kistner E.O.

Cox N.J.

Dolan M.E. Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines. Pharmacogenomics. 10 : 549-563 View in Article Scopus (12)

PubMed

Crossref

Google Scholar

Durazo-Arvizu R.A.

Camacho P.

Bovet P.

Forrester T.

Lambert E.V.

Plange-Rhule J.

Hoofnagle A.N.

Aloia J.

Tayo B.

Dugas L.R.

et al. 25-Hydroxyvitamin D in African-origin populations at varying latitudes challenges the construct of a physiologic norm. Am. J. Clin. Nutr. 100 : 908-914 View in Article Scopus (46)

PubMed

Crossref

Google Scholar

Edwards M.

Bigham A.

Tan J.

Li S.

Gozdzik A.

Ross K.

Jin L.

Parra E.J. Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. PLoS Genet. 6 : e1000867 View in Article Scopus (68)

PubMed

Crossref

Google Scholar

Eriksson N.

Macpherson J.M.

Tung J.Y.

Hon L.S.

Naughton B.

Soxonov S.

Wojcicki A.

Pe’er I.

Mountain J. Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet. 6 View in Article Scopus (276)

Crossref

Google Scholar

Frisancho A.R.

Wainwright R.

Way A. Heritability and components of phenotypic expression in skin reflectance of Mestizos from the Peruvian lowlands. Am. J. Phys. Anthropol. 55 : 203-208 View in Article Scopus (30)

PubMed

Crossref

Google Scholar

Genovese G.

Friedman D.J.

Ross M.D.

Lecordier L.

Uzureau P.

Freedman B.I.

Bowden D.W.

Langefeld C.D.

Oleksyk T.K.

Uscinski Knob A.L.

et al. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 329 : 841-845 View in Article Scopus (1100)

PubMed

Crossref

Google Scholar

Gravel S.

Zakharia F.

Moreno-Estrada A.

Byrnes J.K.

Muzzio M.

Rodriguez-Flores J.L.

Kenny E.E.

Gignoux C.R.

Maples B.K.

Guiblet W.

et al.

1000 Genomes Project Reconstructing Native American migrations from whole-genome and whole-exome data. PLoS Genet. 9 : e1004023 View in Article Scopus (96)

PubMed

Crossref

Google Scholar

Henn B.M.

Gignoux C.R.

Jobin M.

Granka J.M.

Macpherson J.M.

Kidd J.M.

Rodríguez-Botigué L.

Ramachandran S.

Hon L.

Brisbin A.

et al. Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proc. Natl. Acad. Sci. USA. 108 : 5154-5162 View in Article Scopus (234)

PubMed

Crossref

Google Scholar

Henn B.M.

Botigué L.R.

Peischl S.

Dupanloup I.

Lipatov M.

Maples B.K.

Martin A.R.

Musharoff S.

Cann H.

Snyder M.P.

et al. Distance from sub-Saharan Africa predicts mutational load in diverse human genomes. Proc. Natl. Acad. Sci. USA. 113 : E440-E449 View in Article Scopus (90)

PubMed

Crossref

Google Scholar

Howie B.N.

Donnelly P.

Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 5 : e1000529 View in Article Scopus (2259)

PubMed

Crossref

Google Scholar

Kang H.M.

Sul J.H.

Service S.K.

Zaitlen N.A.

Kong S.-Y.

Freimer N.B.

Sabatti C.

Eskin E. Variance component model to account for sample structure in genome-wide association studies. Nat. Genet. 42 : 348-354 View in Article Scopus (1152)

PubMed

Crossref

Google Scholar

Keenen B.

Qi H.

Saladi S.V.

Yeung M.

de la Serna I.L. Heterogeneous SWI/SNF chromatin remodeling complexes promote expression of microphthalmia-associated transcription factor target genes in melanoma. Oncogene. 29 : 81-92 View in Article Scopus (51)

PubMed

Crossref

Google Scholar

Keenen B.

Qi H.

Saladi S.V.

Yeung M.

de la Serna I.L. Heterogeneous SWI/SNF chromatin remodeling complexes promote expression of microphthalmia-associated transcription factor target genes in melanoma. Oncogene. 29 : 81-92 View in Article Scopus (62)

PubMed

Crossref

Google Scholar

Kenny E.E.

Timpson N.J.

Sikora M.

Yee M.C.

Moreno-Estrada A.

Eng C.

Huntsman S.

Burchard E.G.

Stoneking M.

Bustamante C.D.

Myles S. Melanesian blond hair is caused by an amino acid change in TYRP1. Science. 336 : 554 View in Article Scopus (54)

PubMed

Crossref

Google Scholar

Lamason R.L.

Mohideen M.A.

Mest J.R.

Wong A.C.

Norton H.L.

Aros M.C.

Jurynec M.J.

Mao X.

Humphreville V.R.

Humbert J.E.

et al. SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science. 310 : 1782-1786 View in Article Scopus (665)

PubMed

Crossref

Google Scholar

Liu F.

Visser M.

Duffy D.L.

Hysi P.G.

Jacobs L.C.

Lao O.

Zhong K.

Walsh S.

Chaitanya L.

Wollstein A.

et al. Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Hum. Genet. 134 : 823-835 View in Article Scopus (60)

PubMed

Crossref

Google Scholar

McKenna A.

Hanna M.

Banks E.

Sivachenko A.

Cibulskis K.

Kernytsky A.

Garimella K.

Altshuler D.

Gabriel S.

Daly M.

DePristo M.A. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20 : 1297-1303 View in Article Scopus (9485)

PubMed

Crossref

Google Scholar

Nan H.

Kraft P.

Qureshi A.A.

Guo Q.

Chen C.

Hankinson S.E.

Hu F.B.

Thomas G.

Hoover R.N.

Chanock S.

et al. Genome-wide association study of tanning phenotype in a population of european ancestry. J. Invest. Dermatol. 129 : 2250-2257 View in Article Scopus (93)

Google Scholar

Norton H.L.

Kittles R.A.

Parra E.

McKeigue P.

Mao X.

Cheng K.

Canfield V.A.

Bradley D.G.

McEvoy B.

Shriver M.D. Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. Mol. Biol. Evol. 24 : 710-722 View in Article Scopus (258)

PubMed

Crossref

Google Scholar

O’Connell J.

Gurdasani D.

Delaneau O.

Pirastu N.

Ulivi S.

Cocca M.

Traglia M.

Huang J.

Huffman J.E.

Rudan I.

et al. A general approach for haplotype phasing across the full spectrum of relatedness. PLoS Genet. 10 : e1004234 View in Article Scopus (223)

PubMed

Crossref

Google Scholar

Relethford J.H. Human skin color diversity is highest in sub-Saharan African populations. Hum. Biol. 72 : 773-780 View in Article PubMed

Google Scholar

Ripke S.

Neale B.M.

Corvin A.

Walters J.T.R.

Farh K.-H.

Holmans P.A.

Lee P.

Bulik-Sullivan B.

Collier D.A.

Huang H.

et al.

Schizophrenia Working Group of the Psychiatric Genomics Consortium Biological insights from 108 schizophrenia-associated genetic loci. Nature. 511 : 421-427 View in Article Scopus (3481)

PubMed

Crossref

Google Scholar

Schlebusch C.M.

Skoglund P.

Sjödin P.

Gattepaille L.M.

Hernandez D.

Jay F.

Li S.

De Jongh M.

Singleton A.

Blum M.G.B.

et al. Genomic variation in seven Khoe-San groups reveals adaptation and complex African history. Science. 338 : 374-379 View in Article Scopus (201)

PubMed

Crossref

Google Scholar

Schuster S.C.

Miller W.

Ratan A.

Tomsho L.P.

Giardine B.

Kasson L.R.

Harris R.S.

Petersen D.C.

Zhao F.

Qi J.

et al. Complete Khoisan and Bantu genomes from southern Africa. Nature. 463 : 943-947 View in Article Scopus (268)

PubMed

Crossref

Google Scholar

Shriver M.D.

Parra E.J. Comparison of narrow-band reflectance spectroscopy and tristimulus colorimetry for measurements of skin and hair color in persons of different biological ancestry. Am. J. Phys. Anthropol. 112 : 17-27 View in Article Scopus (144)

PubMed

Crossref

Google Scholar

Sulem P.

Gudbjartsson D.F.

Stacey S.N.

Helgason A.

Rafnar T.

Magnusson K.P.

Manolescu A.

Karason A.

Palsson A.

Thorleifsson G.

et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 39 : 1443-1452 View in Article Scopus (454)

PubMed

Crossref

Google Scholar

Sulem P.

Gudbjartsson D.F.

Stacey S.N.

Helgason A.

Rafnar T.

Jakobsdottir M.

Steinberg S.

Gudjonsson S.A.

Palsson A.

Thorleifsson G.

et al. Two newly identified genetic determinants of pigmentation in Europeans. Nat. Genet. 40 : 835-837 View in Article Scopus (230)

PubMed

Crossref

Google Scholar

Tishkoff S.A.

Reed F.A.

Friedlaender F.R.

Ehret C.

Ranciaro A.

Froment A.

Hirbo J.B.

Awomoyi A.A.

Bodo J.M.

Doumbo O.

et al. The genetic structure and history of Africans and African Americans. Science. 324 : 1035-1044 View in Article Scopus (888)

PubMed

Crossref

Google Scholar

Uren C.

Kim M.

Martin A.R.

Bobo D.

Gignoux C.R.

van Helden P.D.

Möller M.

Hoal E.G.

Henn B.M. Fine-Scale Human Population Structure in Southern Africa Reflects Ecogeographic Boundaries. Genetics. 204 : 303-314 View in Article Scopus (38)

PubMed

Crossref

Google Scholar

Veeramah K.R.

Wegmann D.

Woerner A.

Mendez F.L.

Watkins J.C.

Destro-Bisol G.

Soodyall H.

Louie L.

Hammer M.F. An early divergence of KhoeSan ancestors from those of other modern humans is supported by an ABC-based analysis of autosomal resequencing data. Mol. Biol. Evol. 29 : 617-630 View in Article Scopus (85)

PubMed

Crossref

Google Scholar

Ward L.D.

Kellis M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 40 : D930-D934 View in Article Scopus (1265)

PubMed

Crossref

Google Scholar

Wilde S.

Timpson A.

Kirsanow K.

Kaiser E.

Kayser M.

Unterländer M.

Hollfelder N.

Potekhina I.D.

Schier W.

Thomas M.G.

Burger J. Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y. Proc. Natl. Acad. Sci. USA. 111 : 4832-4837 View in Article Scopus (130)

PubMed

Crossref

Google Scholar

Wood A.R.

Esko T.

Yang J.

Vedantam S.

Pers T.H.

Gustafsson S.

Chu A.Y.

Estrada K.

Luan J.

Kutalik Z.

et al.

Electronic Medical Records and Genomics (eMEMERGEGE) Consortium

MIGen Consortium

PAGEGE Consortium

LifeLines Cohort Study Defining the role of common variation in the genomic and biological architecture of adult human height. Nat. Genet. 46 : 1173-1186 View in Article Scopus (882)

PubMed

Crossref

Google Scholar

Yang J.

Benyamin B.

McEvoy B.P.

Gordon S.

Henders A.K.

Nyholt D.R.

Madden P.A.

Heath A.C.

Martin N.G.

Montgomery G.W.

et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 42 : 565-569 View in Article Scopus (2236)

PubMed

Crossref

Google Scholar

Yang, J., Lee, S.H., Goddard, M.E., and Visscher, P.M. (2011). GCTA: A Tool for Genome-wide Complex Trait Analysis. 88, 76–82. View in Article Google Scholar

Yang Z.

Zhong H.

Chen J.

Zhang X.

Zhang H.

Luo X.

Xu S.

Chen H.

Lu D.

Han Y.

et al. A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution. Mol. Biol. Evol. 33 : 1177-1187 View in Article Scopus (18)

PubMed

Crossref

Google Scholar

Yi X.

Liang Y.

Huerta-Sanchez E.

Jin X.

Cuo Z.X.P.

Pool J.E.

Xu X.

Jiang H.

Vinckenbosch N.

Korneliussen T.S.

et al. Sequencing of 50 human exomes reveals adaptation to high altitude. Science. 329 : 75-78 View in Article Scopus (788)

PubMed

Crossref

Google Scholar

Zaitlen N.

Kraft P.

Patterson N.

Pasaniuc B.

Bhatia G.

Pollack S.

Price A.L. Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits. PLoS Genet. 9 : e1003520 View in Article Scopus (185)

PubMed

Crossref

Google Scholar