Publications utilisant le Panel HGDP-CEPH
2021
Boyrie L, Moreau C, Frugier F, Jacquet C, Bonhomme M. A linkage disequilibrium-based statistical test for Genome-Wide Epistatic Selection Scans in structured populations. Heredity (Edinb). 2021 Jan;126(1):77-91. doi: 10.1038/s41437-020-0349-1. Epub 2020 Jul 30. PMID: 32728044; PMCID: PMC7852595.
de la Puente M, Ruiz-Ramírez J, Ambroa-Conde A, Xavier C, Pardo-Seco J, Álvarez-Dios J, Freire-Aradas A, Mosquera-Miguel A, Gross TE, Cheung EYY, Branicki W, Nothnagel M, Parson W, Schneider PM, Kayser M, Carracedo Á, Lareu MV, Phillips C, On Behalf Of The Visage Consortium. Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool. Genes (Basel). 2021 Aug 22;12(8):1284. doi: 10.3390/genes12081284. PMID: 34440458; PMCID: PMC8391248.
Garg P, Martin-Trujillo A, Rodriguez OL, Gies SJ, Hadelia E, Jadhav B, Jain M, Paten B, Sharp AJ. Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression. Am J Hum Genet. 2021 May 6;108(5):809-824. doi: 10.1016/j.ajhg.2021.03.016. Epub 2021 Mar 31. PMID: 33794196; PMCID: PMC8206010.
2020
Bergström A, McCarthy SA, Hui R, Almarri MA, Ayub Q, Danecek P, Chen Y, Felkel S, Hallast P, Kamm J, Blanché H, Deleuze JF, Cann H, Mallick S, Reich D, Sandhu MS, Skoglund P, Scally A, Xue Y, Durbin R, Tyler-Smith C. Insights into human genetic variation and population history from 929 diverse genomes. Science. 2020 Mar 20;367(6484):eaay5012. doi: 10.1126/science.aay5012. PMID: 32193295; PMCID: PMC7115999.
Boyrie L, Moreau C, Frugier F, Jacquet C, Bonhomme M. A linkage disequilibrium-based statistical test for Genome-Wide Epistatic Selection Scans in structured populations. Heredity (Edinb). 2021 Jan;126(1):77-91. doi: 10.1038/s41437-020-0349-1. Epub 2020 Jul 30. PMID: 32728044; PMCID: PMC7852595.
Carvalho Gontijo C, Porras-Hurtado LG, Freire-Aradas A, Fondevila M, Santos C, Salas A, Henao J, Isaza C, Beltrán L, Nogueira Silbiger V, Castillo A, Ibarra A, Moreno Chavez F, Söchtig J, Ruiz Y, Barreto G, Rondon F, Zabala W, Borjas L, de Oliveira SF, Carracedo A, Lareu MV, Phillips C. PIMA: A population informative multiplex for the Americas. Forensic Sci Int Genet. 2020 Jan;44:102200. doi: 10.1016/j.fsigen.2019.102200. Epub 2019 Nov 5. Erratum in: Forensic Sci Int Genet. 2020 Jun 20;48:102320. PMID: 31760353.
de la Puente M, Ruiz-Ramírez J, Ambroa-Conde A, Xavier C, Amigo J, Casares de Cal MÁ, Gómez-Tato A, Carracedo Á, Parson W, Phillips C, Lareu MV. Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data. Front Genet. 2020 Oct 20;11:581041. doi: 10.3389/fgene.2020.581041. PMID: 33193704; PMCID: PMC7606911.
Galimberti M, Leuenberger C, Wolf B, Szilágyi SM, Foll M, Wegmann D. Detecting Selection from Linked Sites Using an F-Model. Genetics. 2020 Dec;216(4):1205-1215. doi: 10.1534/genetics.120.303780. Epub 2020 Oct 16. PMID: 33067324; PMCID: PMC7768260.
Ji L, Wu D, Xie H, Yao B, Chen Y, Irwin DM, Huang D, Xu J, Tang NLS, Zhang Y. Ambient Temperature is A Strong Selective Factor Influencing Human Development and Immunity. Genomics Proteomics Bioinformatics. 2020 Oct;18(5):489-500. doi: 10.1016/j.gpb.2019.11.009. Epub 2020 Aug 19. PMID: 32822870; PMCID: PMC8377383.
Khubrani YM, Jobling MA, Wetton JH. Massively parallel sequencing of sex-chromosomal STRs in Saudi Arabia reveals patrilineage-associated sequence variants. Forensic Sci Int Genet. 2020 Nov;49:102402. doi: 10.1016/j.fsigen.2020.102402. Epub 2020 Oct 2. PMID: 33035796.
Trifonova EA, Popovich AA, Bocharova AV, Vagaitseva KV, Stepanov VA. [The Role of Natural Selection in the Formation of the Genetic Structure of Populations by SNP Markers in Association with Body Mass Index and Obesity]. Mol Biol (Mosk). 2020 May-Jun;54(3):398-411. Russian. doi: 10.31857/S0026898420030179. PMID: 32492003.
Urnikytė A, Molytė A, Pranckevičienė E, Kučinskienė ZA, Kučinskas V. Inferring Effective Population Size and Divergence Time in the Lithuanian Population According to High-Density Genotyping Data. Genes (Basel). 2020 Mar 10;11(3):293. doi: 10.3390/genes11030293. PMID: 32164396; PMCID: PMC7140885.
2019
Augusto DG, Norman PJ, Dandekar R, Hollenbach JA. Fluctuating and Geographically Specific Selection Characterize Rapid Evolution of the Human KIR Region. Front Immunol. 2019 May 17;10:989. doi: 10.3389/fimmu.2019.00989. PMID: 31156615; PMCID: PMC6533848.
He G, Adnan A, Rakha A, Yeh HY, Wang M, Zou X, Guo J, Rehman M, Fawad A, Chen P, Wang CC. A comprehensive exploration of the genetic legacy and forensic features of Afghanistan and Pakistan Mongolian-descent Hazara. Forensic Sci Int Genet. 2019 Sep;42:e1-e12. doi: 10.1016/j.fsigen.2019.06.018. Epub 2019 Jun 25. PMID: 31257046.
Hsieh P, Vollger MR, Dang V, Porubsky D, Baker C, Cantsilieris S, Hoekzema K, Lewis AP, Munson KM, Sorensen M, Kronenberg ZN, Murali S, Nelson BJ, Chiatante G, Maggiolini FAM, Blanché H, Underwood JG, Antonacci F, Deleuze JF, Eichler EE. Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes. Science. 2019 Oct 18;366(6463):eaax2083. doi: 10.1126/science.aax2083. PMID: 31624180; PMCID: PMC6860971.
Jin XY, Wei YY, Lan Q, Cui W, Chen C, Guo YX, Fang YT, Zhu BF. A set of novel SNP loci for differentiating continental populations and three Chinese populations. PeerJ. 2019 Mar 29;7:e6508. doi: 10.7717/peerj.6508. PMID: 30956897; PMCID: PMC6445247.
Petit F, Minnai F, Chiaroni J, Underhill PA, Bailly P, Mazières S, Costedoat C. The radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests. Eur J Hum Genet. 2019 Jan;27(1):125-132. doi: 10.1038/s41431-018-0245-9. Epub 2018 Aug 24. PMID: 30143806; PMCID: PMC6303257.
2018
Corona E, Wang L, Ko D, Patel CJ. Systematic detection of positive selection in the human-pathogen interactome and lasting effects on infectious disease susceptibility. PLoS One. 2018 May 25;13(5):e0196676. doi: 10.1371/journal.pone.0196676. PMID: 29799843; PMCID: PMC5969750.
Gontijo CC, Mendes FM, Santos CA, Klautau-Guimarães MN, Lareu MV, Carracedo Á, Phillips C, Oliveira SF. Ancestry analysis in rural Brazilian populations of African descent. Forensic Sci Int Genet. 2018 Sep;36:160-166. doi: 10.1016/j.fsigen.2018.06.018. Epub 2018 Jun 28. PMID: 30031223.
Hao WQ, Liu J, Jiang L, Han JP, Wang L, Li JL, Ma Q, Liu C, Wang HJ, Li CX. Exploring the ancestry differentiation and inference capacity of the 28-plex AISNPs. Int J Legal Med. 2019 Jul;133(4):975-982. doi: 10.1007/s00414-018-1863-z. Epub 2018 Jun 7. Retraction in: Int J Legal Med. 2021 Nov;135(6):2149. PMID: 29882060.
Moriot A, Santos C, Freire-Aradas A, Phillips C, Hall D. Inferring biogeographic ancestry with compound markers of slow and fast evolving polymorphisms. Eur J Hum Genet. 2018 Nov;26(11):1697-1707. doi: 10.1038/s41431-018-0215-2. Epub 2018 Jul 11. PMID: 29995845; PMCID: PMC6189140.
Petit F, Minnai F, Chiaroni J, Underhill PA, Bailly P, Mazières S, Costedoat C. The radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests. Eur J Hum Genet. 2019 Jan;27(1):125-132. doi: 10.1038/s41431-018-0245-9. Epub 2018 Aug 24. PMID: 30143806; PMCID: PMC6303257.
Phillips C, Devesse L, Ballard D, van Weert L, de la Puente M, Melis S, Álvarez Iglesias V, Freire-Aradas A, Oldroyd N, Holt C, Syndercombe Court D, Carracedo Á, Lareu MV. Global patterns of STR sequence variation: Sequencing the CEPH human genome diversity panel for 58 forensic STRs using the Illumina ForenSeq DNA Signature Prep Kit. Electrophoresis. 2018 Nov;39(21):2708-2724. doi: 10.1002/elps.201800117. Epub 2018 Sep 3. PMID: 30101987.
Sethuraman A. Estimating Genetic Relatedness in Admixed Populations. G3 (Bethesda). 2018 Oct 3;8(10):3203-3220. doi: 10.1534/g3.118.200485. PMID: 30104261; PMCID: PMC6169378.
2017
Cheung EYY, Gahan ME, McNevin D. Prediction of biogeographical ancestry from genotype: a comparison of classifiers. Int J Legal Med. 2017 Jul;131(4):901-912. doi: 10.1007/s00414-016-1504-3. Epub 2016 Dec 20. PMID: 27995319.
Das R, Upadhyai P. Application of geographic population structure (GPS) algorithm for biogeographical analyses of populations with complex ancestries: a case study of South Asians from 1000 genomes project. BMC Genet. 2017 Dec 28;18(Suppl 1):109. doi: 10.1186/s12863-017-0579-2. Erratum in: BMC Genet. 2018 Oct 25;19(1):96. PMID: 29297311; PMCID: PMC5751663.
Das R, Upadhyai P. Unraveling the Population History of Indian Siddis. Genome Biol Evol. 2017 Jun 1;9(6):1385-1392. doi: 10.1093/gbe/evx095. PMID: 28595281; PMCID: PMC5518532.
de la Puente M, Phillips C, Fondevila M, Gelabert-Besada M, Carracedo Á, Lareu MV. A forensic multiplex of nine novel pentameric-repeat STRs. Forensic Sci Int Genet. 2017 Jul;29:154-164. doi: 10.1016/j.fsigen.2017.04.007. Epub 2017 Apr 15. PMID: 28445836.
Furusawa T, Naka I, Yamauchi T, Natsuhara K, Eddie R, Kimura R, Nakazawa M, Ishida T, Ohtsuka R, Ohashi J. Polymorphisms associated with a tropical climate and root crop diet induce susceptibility to metabolic and cardiovascular diseases in Solomon Islands. PLoS One. 2017 Mar 2;12(3):e0172676. doi: 10.1371/journal.pone.0172676. PMID: 28253292; PMCID: PMC5333831.
Kuismin MO, Ahlinder J, Sillanpӓӓ MJ. CONE: Community Oriented Network Estimation Is a Versatile Framework for Inferring Population Structure in Large-Scale Sequencing Data. G3 (Bethesda). 2017 Oct 5;7(10):3359-3377. doi: 10.1534/g3.117.300131. PMID: 28830924; PMCID: PMC5633386.
Pan X, Wang Y, Wong, EHM et al. Fine population structure analysis method for genomes of many. Sci Rep 2017; 7:12608. doi: 10.1038/s41598-017-12319-1
Pappas DJ, Lizee A, Paunic V, Beutner KR, Motyer A, Vukcevic D, Leslie S, Biesiada J, Meller J, Taylor KD, Zheng X, Zhao LP, Gourraud PA, Hollenbach JA, Mack SJ, Maiers M. Significant variation between SNP-based HLA imputations in diverse populations: the last mile is the hardest. Pharmacogenomics J. 2018 May 22;18(3):367-376. doi: 10.1038/tpj.2017.7. Epub 2017 Apr 25. PMID: 28440342; PMCID: PMC5656547.
Parolo S, Lacroix S, Kaput J, Scott-Boyer MP. Ancestors' dietary patterns and environments could drive positive selection in genes involved in micronutrient metabolism-the case of cofactor transporters. Genes Nutr. 2017 Oct 4;12:28. doi: 10.1186/s12263-017-0579-x. PMID: 29043008; PMCID: PMC5628472.
Phillips C. A genomic audit of newly-adopted autosomal STRs for forensic identification. Forensic Sci Int Genet. 2017 Jul;29:193-204. doi: 10.1016/j.fsigen.2017.04.011. Epub 2017 Apr 23. PMID: 28463807.
Rawofi L, Edwards M, Krithika S, Le P, Cha D, Yang Z, Ma Y, Wang J, Su B, Jin L, Norton HL, Parra EJ. Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. PeerJ. 2017 Nov 2;5:e3951. doi: 10.7717/peerj.3951. PMID: 29109912; PMCID: PMC5671666.
Rishishwar L, Jordan IK. Implications of human evolution and admixture for mitochondrial replacement therapy. BMC Genomics. 2017 Feb 8;18(1):140. doi: 10.1186/s12864-017-3539-3. PMID: 28178941; PMCID: PMC5299762.
Somers M, Olde Loohuis LM, Aukes MF, Pasaniuc B, de Visser KCL, Kahn RS, Sommer IE, Ophoff RA. A Genetic Population Isolate in The Netherlands Showing Extensive Haplotype Sharing and Long Regions of Homozygosity. Genes (Basel). 2017 May 4;8(5):133. doi: 10.3390/genes8050133. PMID: 28471380; PMCID: PMC5448007.
Zhang E, Bell AJ, Wilkie GS, Suárez NM, Batini C, Veal CD, Armendáriz-Castillo I, Neumann R, Cotton VE, Huang Y, Porteous DJ, Jarrett RF, Davison AJ, Royle NJ. Inherited Chromosomally Integrated Human Herpesvirus 6 Genomes Are Ancient, Intact, and Potentially Able To Reactivate from Telomeres. J Virol. 2017 Oct 27;91(22):e01137-17. doi: 10.1128/JVI.01137-17. PMID: 28835501; PMCID: PMC5660504.
Zhou Y, Yuan K, Yu Y, Ni X, Xie P, Xing EP, Xu S. Inference of multiple-wave population admixture by modeling decay of linkage disequilibrium with polynomial functions. Heredity (Edinb). 2017 May;118(5):503-510. doi: 10.1038/hdy.2017.5. Epub 2017 Feb 15. PMID: 28198814; PMCID: PMC5564381.
2016
Badgeley MA, Shameer K, Glicksberg BS, et al. EHDViz: clinical dashboard development using open-source technologies. BMJ Open 2016 6:e010579. doi: 10.1136/bmjopen-2015-010579.
Basu A, Sarkar-Roy N, Majumder PP. Genomic reconstruction of the history of extant populations of India reveals five distinct ancestral components and a complex structure. Proc Natl Acad Sci U S A. 2016 Feb 9;113(6):1594-9. doi: 10.1073/pnas.1513197113. Epub 2016 Jan 25. PMID: 26811443; PMCID: PMC4760789.
Buhard O, Lagrange A, Guilloux A, Colas C, Chouchène M, Wanherdrick K, Coulet F, Guillerm E, Dorard C, Marisa L, Bokhari A, Greene M, El-Murr N, Bodo S, Muleris M, Sourouille I, Svrcek M, Cervera P, Blanché H, Lefevre JH, Parc Y, Lepage C, Chapusot C, Bouvier AM, Gaub MP, Selves J, Garrett K, Iacopetta B, Soong R, Hamelin R, Garrido C, Lascols O, André T, Fléjou JF, Collura A, Duval A. HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer. J Med Genet. 2016 Jun;53(6):377-84. doi: 10.1136/jmedgenet-2015-103518. Epub 2016 Feb 1. PMID: 26831756.
Fu Q, Posth C, Hajdinjak M, Petr M, Mallick S, Fernandes D, Furtwängler A, Haak W, Meyer M, Mittnik A, Nickel B, Peltzer A, Rohland N, Slon V, Talamo S, Lazaridis I, Lipson M, Mathieson I, Schiffels S, Skoglund P, Derevianko AP, Drozdov N, Slavinsky V, Tsybankov A, Cremonesi RG, Mallegni F, Gély B, Vacca E, Morales MR, Straus LG, Neugebauer-Maresch C, Teschler-Nicola M, Constantin S, Moldovan OT, Benazzi S, Peresani M, Coppola D, Lari M, Ricci S, Ronchitelli A, Valentin F, Thevenet C, Wehrberger K, Grigorescu D, Rougier H, Crevecoeur I, Flas D, Semal P, Mannino MA, Cupillard C, Bocherens H, Conard NJ, Harvati K, Moiseyev V, Drucker DG, Svoboda J, Richards MP, Caramelli D, Pinhasi R, Kelso J, Patterson N, Krause J, Pääbo S, Reich D. The genetic history of Ice Age Europe. Nature. 2016 Jun 9;534(7606):200-5. doi: 10.1038/nature17993. Epub 2016 May 2. PMID: 27135931; PMCID: PMC4943878.
Granot Y, Tal O, Rosset S, Skorecki K. On the Apportionment of Population Structure. PLoS One. 2016 Aug 9;11(8):e0160413. doi: 10.1371/journal.pone.0160413. Erratum in: PLoS One. 2016;11(9):e0163343. PMID: 27505172; PMCID: PMC4978449.
Hao W, Song M, Storey JD. Probabilistic models of genetic variation in structured populations applied to global human studies. Bioinformatics 2016 Mar 32(5): 713–721. doi: 10.1093/bioinformatics/btv641.
Hellenthal G, Falush D, Myers S, Reich D, Busby GB, Lipson M, Capelli C, Patterson N. The Kalash Genetic Isolate? The Evidence for Recent Admixture. Am J Hum Genet. 2016 Feb 4;98(2):396-7. doi: 10.1016/j.ajhg.2015.12.025. PMID: 26849116; PMCID: PMC4746362.
Henn BM, Botigué LR, Peischl S, Dupanloup I, Lipatov M, Maples BK, Martin AR, Musharoff S, Cann H, Snyder MP, Excoffier L, Kidd JM, Bustamante CD. Distance from sub-Saharan Africa predicts mutational load in diverse human genomes. Proc Natl Acad Sci U S A. 2016 Jan 26;113(4):E440-9. doi: 10.1073/pnas.1510805112. Epub 2015 Dec 28. PMID: 26712023; PMCID: PMC4743782.
Llamas B, Fehren-Schmitz L, Valverde G, Soubrier J, Mallick S, Rohland N, Nordenfelt S, Valdiosera C, Richards SM, Rohrlach A, Romero MI, Espinoza IF, Cagigao ET, Jiménez LW, Makowski K, Reyna IS, Lory JM, Torrez JA, Rivera MA, Burger RL, Ceruti MC, Reinhard J, Wells RS, Politis G, Santoro CM, Standen VG, Smith C, Reich D, Ho SY, Cooper A, Haak W. Ancient mitochondrial DNA provides high-resolution time scale of the peopling of the Americas. Sci Adv. 2016 Apr 1;2(4):e1501385. doi: 10.1126/sciadv.1501385. PMID: 27051878; PMCID: PMC4820370.
Loret de Mola C, Hartwig FP, Gonçalves H, Quevedo Lde A, Pinheiro R, Gigante DP, Motta JV, Pereira AC, Barros FC, Horta BL. Genomic ancestry and the social pathways leading to major depression in adulthood: the mediating effect of socioeconomic position and discrimination. BMC Psychiatry. 2016 Sep 5;16(1):308. doi: 10.1186/s12888-016-1015-2. PMID: 27596337; PMCID: PMC5011949.
Mallick S, Li H, Lipson M, Mathieson I, Gymrek M, Racimo F, Zhao M, Chennagiri N, Nordenfelt S, Tandon A, Skoglund P, Lazaridis I, Sankararaman S, Fu Q, Rohland N, Renaud G, Erlich Y, Willems T, Gallo C, Spence JP, Song YS, Poletti G, Balloux F, van Driem G, de Knijff P, Romero IG, Jha AR, Behar DM, Bravi CM, Capelli C, Hervig T, Moreno-Estrada A, Posukh OL, Balanovska E, Balanovsky O, Karachanak-Yankova S, Sahakyan H, Toncheva D, Yepiskoposyan L, Tyler-Smith C, Xue Y, Abdullah MS, Ruiz-Linares A, Beall CM, Di Rienzo A, Jeong C, Starikovskaya EB, Metspalu E, Parik J, Villems R, Henn BM, Hodoglugil U, Mahley R, Sajantila A, Stamatoyannopoulos G, Wee JT, Khusainova R, Khusnutdinova E, Litvinov S, Ayodo G, Comas D, Hammer MF, Kivisild T, Klitz W, Winkler CA, Labuda D, Bamshad M, Jorde LB, Tishkoff SA, Watkins WS, Metspalu M, Dryomov S, Sukernik R, Singh L, Thangaraj K, Pääbo S, Kelso J, Patterson N, Reich D. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature. 2016 Oct 13;538(7624):201-206. doi: 10.1038/nature18964. Epub 2016 Sep 21. PMID: 27654912; PMCID: PMC5161557.
Mendez FL, Poznik GD, Castellano S, Bustamante CD. The Divergence of Neandertal and Modern Human Y Chromosomes. Am J Hum Genet. 2016 Apr 7;98(4):728-34. doi: 10.1016/j.ajhg.2016.02.023. PMID: 27058445; PMCID: PMC4833433.
Ni X, Guo W, Yuan K, Yang X, Ma Z, Xu S, Zhang S. A Probabilistic Method for Estimating the Sharing of Identity by Descent for Populations with Migration. IEEE/ACM Trans Comput Biol Bioinform. 2016 Mar-Apr;13(2):281-90. doi: 10.1109/TCBB.2015.2480074. Epub 2015 Sep 18. PMID: 26394436.
Pagani L, Lawson DJ, Jagoda E, Mörseburg A, Eriksson A, Mitt M, Clemente F, Hudjashov G, DeGiorgio M, Saag L, Wall JD, Cardona A, Mägi R, Wilson Sayres MA, Kaewert S, Inchley C, Scheib CL, Järve M, Karmin M, Jacobs GS, Antao T, Iliescu FM, Kushniarevich A, Ayub Q, Tyler-Smith C, Xue Y, Yunusbayev B, Tambets K, Mallick CB, Saag L, Pocheshkhova E, Andriadze G, Muller C, Westaway MC, Lambert DM, Zoraqi G, Turdikulova S, Dalimova D, Sabitov Z, Sultana GNN, Lachance J, Tishkoff S, Momynaliev K, Isakova J, Damba LD, Gubina M, Nymadawa P, Evseeva I, Atramentova L, Utevska O, Ricaut FX, Brucato N, Sudoyo H, Letellier T, Cox MP, Barashkov NA, Skaro V, Mulahasanovic L, Primorac D, Sahakyan H, Mormina M, Eichstaedt CA, Lichman DV, Abdullah S, Chaubey G, Wee JTS, Mihailov E, Karunas A, Litvinov S, Khusainova R, Ekomasova N, Akhmetova V, Khidiyatova I, Marjanović D, Yepiskoposyan L, Behar DM, Balanovska E, Metspalu A, Derenko M, Malyarchuk B, Voevoda M, Fedorova SA, Osipova LP, Lahr MM, Gerbault P, Leavesley M, Migliano AB, Petraglia M, Balanovsky O, Khusnutdinova EK, Metspalu E, Thomas MG, Manica A, Nielsen R, Villems R, Willerslev E, Kivisild T, Metspalu M. Genomic analyses inform on migration events during the peopling of Eurasia. Nature. 2016 Oct 13;538(7624):238-242. doi: 10.1038/nature19792. Epub 2016 Sep 21. PMID: 27654910; PMCID: PMC5164938.
Sankararaman S, Mallick S, Patterson N, Reich D. The Combined Landscape of Denisovan and Neanderthal Ancestry in Present-Day Humans. Curr Biol. 2016 May 9;26(9):1241-7. doi: 10.1016/j.cub.2016.03.037. Epub 2016 Mar 28. PMID: 27032491; PMCID: PMC4864120.
Skoglund P, Posth C, Sirak K, Spriggs M, Valentin F, Bedford S, Clark GR, Reepmeyer C, Petchey F, Fernandes D, Fu Q, Harney E, Lipson M, Mallick S, Novak M, Rohland N, Stewardson K, Abdullah S, Cox MP, Friedlaender FR, Friedlaender JS, Kivisild T, Koki G, Kusuma P, Merriwether DA, Ricaut FX, Wee JT, Patterson N, Krause J, Pinhasi R, Reich D. Genomic insights into the peopling of the Southwest Pacific. Nature. 2016 Oct 27;538(7626):510-513. doi: 10.1038/nature19844. Epub 2016 Oct 3. PMID: 27698418; PMCID: PMC5515717.
Skoglund P, Reich D. A genomic view of the peopling of the Americas. Curr Opin Genet Dev. 2016 Dec;41:27-35. doi: 10.1016/j.gde.2016.06.016. Epub 2016 Aug 6. PMID: 27507099; PMCID: PMC5161672.
Soundararajan U, Yun L, Shi M, Kidd KK. Minimal SNP overlap among multiple panels of ancestry informative markers argues for more international collaboration. Forensic Sci Int Genet. 2016 Jul;23:25-32. doi: 10.1016/j.fsigen.2016.01.013. Epub 2016 Jan 22. PMID: 26977931.
2015
Aggarwal S, Gheware A, Agrawal A, Ghosh S, Prasher B, Mukerji M; Indian Genome Variation Consortium. Combined genetic effects of EGLN1 and VWF modulate thrombotic outcome in hypoxia revealed by Ayurgenomics approach. J Transl Med. 2015 Jun 6;13:184. doi: 10.1186/s12967-015-0542-9. PMID: 26047609; PMCID: PMC4457985.
Bilgin Sonay T, Carvalho T, Robinson MD, Greminger MP, Krützen M, Comas D, Highnam G, Mittelman D, Sharp A, Marques-Bonet T, Wagner A. Tandem repeat variation in human and great ape populations and its impact on gene expression divergence. Genome Res. 2015 Nov;25(11):1591-9. doi: 10.1101/gr.190868.115. Epub 2015 Aug 19. PMID: 26290536; PMCID: PMC4617956.
Blair LM, Feldman MW. The role of climate and out-of-Africa migration in the frequencies of risk alleles for 21 human diseases. BMC Genet. 2015 Jul 14;16:81. doi: 10.1186/s12863-015-0239-3. PMID: 26170196; PMCID: PMC4501093.
Ilyas M, Kim JS, Cooper J, Shin YA, Kim HM, Cho YS, Hwang S, Kim H, Moon J, Chung O, Jun J, Rastogi A, Song S, Ko J, Manica A, Rahman Z, Husnain T, Bhak J. Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan. BMC Genomics. 2015 Mar 12;16(1):172. doi: 10.1186/s12864-015-1290-1. PMID: 25887915; PMCID: PMC4362645.
Liu F, Visser M, Duffy DL, Hysi PG, Jacobs LC, Lao O, Zhong K, Walsh S, Chaitanya L, Wollstein A, Zhu G, Montgomery GW, Henders AK, Mangino M, Glass D, Bataille V, Sturm RA, Rivadeneira F, Hofman A, van IJcken WF, Uitterlinden AG, Palstra RJ, Spector TD, Martin NG, Nijsten TE, Kayser M. Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Hum Genet. 2015 Aug;134(8):823-35. doi: 10.1007/s00439-015-1559-0. Epub 2015 May 12. PMID: 25963972; PMCID: PMC4495261.
Mezzavilla M, Geppert M, Tyler-Smith C, Roewer L, Xue Y. Insights into the origin of rare haplogroup C3* Y chromosomes in South America from high-density autosomal SNP genotyping. Forensic Sci Int Genet. 2015 Mar;15:115-20. doi: 10.1016/j.fsigen.2014.11.005. Epub 2014 Nov 18. PMID: 25435155; PMCID: PMC4312352.
Santos C, Phillips C, Fondevila M, Daniel R, van Oorschot RAH, Burchard EG, Schanfield MS, Souto L, Uacyisrael J, Via M, Carracedo Á, Lareu MV. Pacifiplex: an ancestry-informative SNP panel centred on Australia and the Pacific region. Forensic Sci Int Genet. 2016 Jan;20:71-80. doi: 10.1016/j.fsigen.2015.10.003. Epub 2015 Oct 20. PMID: 26517174.
Santos C, Phillips C, Oldoni F, Amigo J, Fondevila M, Pereira R, Carracedo Á, Lareu MV. Completion of a worldwide reference panel of samples for an ancestry informative Indel assay. Forensic Sci Int Genet. 2015 Jul;17:75-80. doi: 10.1016/j.fsigen.2015.03.011. Epub 2015 Mar 25. PMID: 25840342.
Seitz T, Stalmann R, Dalila N, Chen J, Pojar S, Dos Santos Pereira JN, Krätzner R, Brockmöller J, Tzvetkov MV. Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1. Genome Med. 2015 Jun 18;7(1):56. doi: 10.1186/s13073-015-0172-0. PMID: 26157489; PMCID: PMC4495841.
Wildschutte JH, Baron A, Diroff NM, Kidd JM. Discovery and characterization of Alu repeat sequences via precise local read assembly. Nucleic Acids Research. 2015 Dec 43(21):10292–10307. doi: 10.1093/nar/gkv1089.
2013
Aigner J, Villatoro S, Rabionet R, Roquer J, Jiménez-Conde J, Martí E, Estivill X. A common 56-kilobase deletion in a primate-specific segmentalduplication creates a novel butyrophilin-like protein. BMC Genet. 2013 Jul6;14:61. doi: 10.1186/1471-2156-14-61.
Bassaganyas L, Riveira-Muñoz E, García-Aragonés M, González JR, Cáceres M, Armengol L, Estivill X. Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders. BMC Genomics. 2013 Apr 17;14(1):261. [Epub ahead of print]
Cagliani R, Pozzoli U, Forni D, Cassinotti A, Fumagalli M, Giani M, Fichera M, Lombardini M, Ardizzone S, Asselta R, de Franchis R, Riva S, Biasin M, Comi GP, Bresolin N, Clerici M, Sironi M. Crohn's disease Loci are common targets of protozoa-driven selection. Mol Biol Evol. 2013 May;30(5):1077-87. doi: 10.1093/molbev/mst020.
Corona E, Chen R, Sikora M, Morgan AA, Patel CJ, Ramesh A, Bustamante CD, Butte AJ. Analysis of the genetic basis of disease in the context of worldwide human relationships and migration. PLoS Genet. 2013 May;9(5):e1003447. doi: 10.1371/journal.pgen.1003447.
Di Gaetano C, Matullo G, Piazza A, Ursino M, Gasparini M. A proximity-based method to identify genomic regions correlated with a continuously varying environmental variable. Evol Bioinform Online. 2013;9:29-42
Forni D, Cagliani R, Pozzoli U, Colleoni M, Riva S, Biasin M, Filippi G, De Gioia L, Gnudi F, Comi GP, Bresolin N, Clerici M, Sironi M. A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles. Immunity. 2013 Jun 27;38(6):1129-41.
Gumus E, Gormez Z, Kursun O. Multi objective SNP selection using pareto optimality. Comput Biol Chem. 2013 Apr;43:23-8.
Holmes LV, Strain L, Staniforth SJ, Moore I, Marchbank K, Kavanagh D, Goodship JA, Cordell HJ, Goodship TH. Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32. PLoS One. 2013 Apr 16;8(4):e60352. doi:10.1371/journal.pone.0060352.
Hsu I, Chen R, Ramesh A, Corona E, Kang HP, Ruau D, Butte AJ. Systematic Identification of DNA variants associated with ultraviolet radiation using a novel Geographic-Wide Association Study (GeoWAS). BMC Med Genet. 2013 Jun doi: 10.1186/1471-2350-14-62.
Lipson M, Loh PR, Levin A, Reich D, Patterson N, Berger B. Efficient moment-based inference of admixture parameters and sources of gene flow. Mol Biol Evol. 2013 May 24 [Epub ahead of print] doi:10.1093/molbev/mst099.
Loh PR, Lipson M, Patterson N, Moorjani P, Pickrell JK, Reich D, Berger B. Inferring admixture histories of human populations using linkage disequilibrium. Genetics. 2013 Apr;193(4):1233-54.
Manta FS, Pereira R, Caiafa A, Silva DA, Gusmão L, Carvalho EF. Analysis of genetic ancestry in the admixed Brazilian population from Rio de Janeiro using 46 autosomal ancestry-informative indel markers. Ann Hum Biol. 2013 Jan; 40(1):94-8
Nievergelt CM, Maihofer AX, Shekhtman T, Libiger O, Wang X, Kidd KK, Kidd JR. Inference of human continental origin and admixture proportions using a highly discriminative ancestry informative 41-SNP panel. Investig Genet. 2013 Jul 1;4(1):13. doi: 10.1186/2041-2223-4-13.
Pemberton TJ, DeGiorgio M, Rosenberg NA. Population structure in a comprehensive genomic data set on human microsatellite variation. G3 (Bethesda) 2013 May 3(5):891-907.
Phillips C, Kind S, Fernandez-Formoso L, Gelabert-Besada M, Carracedo A, LareuMV. Global population variability in Promega PowerPlex CS7, D6S1043, and Penta B STRs. Int J Legal Med. 2013 Sep;127(5):901-6.
Schlebusch CM, Lewis CM Jr, Vahter M, Engström K, Tito RY, Obregón-Tito AJ, Huerta D, Polo SI, Medina AC, Brutsaert TD, Concha G, Jakobsson M, Broberg K. Possible Positive Selection for an Arsenic-Protective Haplotype in Humans. Environ Health Perspect. 2013 Jan;121(1):53-58.
2012
Alkorta-Aranburu G, Beall CM, Witonsky DB, Gebremedhin A, Pritchard JK, Di Rienzo A. The genetic architecture of adaptations to high altitude in ethiopia. PLoS Genet. 2012 Dec;8(12):e1003110. doi: 10.1371/journal.pgen.1003110.
Ameur A, Enroth S, Johansson A, Zaboli G, Igl W, Johansson AC, Rivas MA, Daly MJ, Schmitz G, Hicks AA, Meitinger T, Feuk L, van Duijn C, Oostra B, Pramstaller PP, Rudan I, Wright AF, Wilson JF, Campbell H, Gyllensten U. Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids. Am J Hum Genet. 2012 May 4;90(5):809-820.
Chen R, Corona E, Sikora M, Dudley JT, Morgan AA, Moreno-Estrada A, Nilsen GB,Ruau D, Lincoln SE, Bustamante CD, Butte AJ. Type 2 Diabetes Risk Alleles Demonstrate Extreme Directional Differentiation among Human Populations, Compared to Other Diseases. PLoS Genet. 2012 Apr;8(4):e1002621.
Fondevila M, Phillips C, Santos C, Freire Aradas A, Vallone PM, Butler JM, Lareu MV, Carracedo A. Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies. Forensic Sci Int Genet. 2012 Jun 29. pii: S1872-4973(12)00140-8. doi: 10.1016/j.fsigen.2012.06.007.
Henn BM, Hon L, Macpherson JM, Eriksson N, Saxonov S, Pe'er I, Mountain JL. Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples. PLoS One. 2012;7(4):e34267.
Hodo?lugil U, Mahley RW. Turkish Population Structure and Genetic Ancestry Reveal Relatedness among Eurasian Populations. Ann Hum Genet. 2012 Mar;76(2):128-41.
Hofer T, Foll M, Excoffier L. Evolutionary forces shaping genomic islands of population differentiation in humans. BMC Genomics. 2012 Mar 22; 13: 107.
Hollenbach JA, Nocedal I, Ladner MB, Single RM, Trachtenberg EA. Killer cell immunoglobulin-like receptor (KIR) gene content variation in the HGDP-CEPH populations. Immunogenetics. 2012 Oct;64(10):719-37.
Huff CD, Witherspoon D, Zhang Y, Gatenbee C, Denson LA, Kugathasan S, Hakonarson H, Whiting A, Davis C, Wu W, Xing J, Watkins WS, Bamshad M, Bradfield JP, Bulayeva K, Simonson TS, Jorde LB, Guthery SL. Crohn's disease and genetic hitchhiking at IBD5. Mol Biol Evol (2012) Jan;29(1): 101-111.
Ji LD, Qiu YQ, Xu J, Irwin DM, Tam SC, Tang NL, Zhang YP. Genetic adaptation of the hypoxia-inducible factor pathway to oxygen pressure among Eurasian human populations. Mol Biol Evol. 2012 May 23.
Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, Eitner F, Snyder HJ, Choi M, Hou P, Scolari F, Izzi C, Gigante M, Gesualdo L, Savoldi S, Amoroso A, Cusi D, Zamboli P, Julian BA, Novak J, Wyatt RJ, Mucha K, Perola M, Kristiansson K, Viktorin A, Magnusson PK, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Boland A, Metzger M, Thibaudin L, Wanner C, Jager KJ, Goto S, Maixnerova D, Karnib HH, Nagy J, Panzer U, Xie J, Chen N, Tesar V, Narita I, Berthoux F, Floege J, Stengel B, Zhang H, Lifton RP, Gharavi AG. Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis. PLoS Genet. 2012;8(6):e1002765. doi: 10.1371/journal.pgen.1002765. Epub 2012 Jun 21. PMID: 22737082; PMCID: PMC3380840.
Kuhn PC, Horimoto AR, Sanches JM, Vieira Filho JP, Franco L, Fabbro AD, Franco LJ, Pereira AC, Moises RS. Genome-wide analysis in brazilian xavante indians reveals low degree of admixture. PLoS One. 2012;7(8):e42702.
Lawson DJ, Hellenthal G, Myers S, Falush D. Inference of Population Structure using Dense Haplotype Data. PLoS Genet. 2012 Jan;8(1):e1002453.
Lee S, Kang J, Oh J. A 2-phased approach for detecting multiple loci associations with traits. Int J Data Min Bioinform. 2012;6(5):535-56.
Levran O, Awolesi O, Shen PH, Adelson M, Kreek MJ. Estimating ancestral proportions in a multi-ethnic US sample: implications for studies of admixed populations. Hum Genomics. 2012 Jul 5;6(1):2.
Li H, Wang JX, Wu DD, Wang HW, Tang NL, Zhang YP. The Origin and Evolution of Variable Number Tandem Repeat of CLEC4M Gene in the Global Human Population. PLoS One. 2012;7(1):e30268.
Machado LR, Hardwick RJ, Bowdrey J, Bogle H, Knowles TJ, Sironi M, Hollox EJ. Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fc? Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection. Am J Hum Genet. 2012 Jun 8;90(6):973-985.
Magalhães TR, Casey JP, Conroy J, Regan R, Fitzpatrick DJ, Shah N, Sobral J, Ennis S. HGDP and HapMap Analysis by Ancestry Mapper Reveals Local and Global Population Relationships. PLoS One. 2012;7(11):e49438. Epub 2012 Nov 26. doi: 10.1371/journal.pone.0049438.
Manichaikul A, Palmas W, Rodriguez CJ, Peralta CA, Divers J, Guo X, Chen WM, Wong Q, Williams K, Kerr KF, Taylor KD, Tsai MY, Goodarzi MO, Sale MM, Diez-Roux AV, Rich SS, Rotter JI, Mychaleckyj JC. Population structure of hispanics in the United States: the multi-ethnic study of atherosclerosis. PLoS Genet. 2012 Apr;8(4):e1002640.
Mendez FL, Watkins JC, Hammer MF. A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea. Am J Hum Genet. 2012 Aug 10;91(2):265-74.
Mendez FL, Watkins JC, Hammer MF. Global genetic variation at OAS1 provides evidence of archaic admixture in Melanesian populations. Mol Biol Evol. 2012 Jun;29(6):1513-20.
Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, Schraiber JG, Jay F, Prüfer K, de Filippo C, Sudmant PH, Alkan C, Fu Q, Do R, Rohland N, Tandon A, Siebauer M, Green RE, Bryc K, Briggs AW, Stenzel U, Dabney J, Shendure J, Kitzman J, Hammer MF, Shunkov MV, Derevianko AP, Patterson N, Andrés AM, Eichler EE, Slatkin M, Reich D, Kelso J, Pääbo S. A High-Coverage Genome Sequence from an Archaic Denisovan Individual. Science. 2012 Oct 12;338(6104):222-6.
Patillon B, Luisi P, Blanché H, Patin E, Cann HM, Génin E, Sabbagh A. Positive Selection in the Chromosome 16 VKORC1 Genomic Region Has Contributed to the Variability of Anticoagulant Response in Humans. PLoS One. 2012;7(12):e53049. doi: 10.1371/journal.pone.0053049
Patterson N, Moorjani P, Luo Y, Mallick S, Rohland N, Zhan Y, Genschoreck T, Webster T, Reich D. Ancient admixture in human history. Genetics. 2012 Nov;192(3):1065-93. doi: 10.1534/genetics.112.145037.
Pemberton TJ, Absher D, Feldman MW, Myers RM, Rosenberg NA, Li JZ. Genomic patterns of homozygosity in worldwide human populations. Am J Hum Genet. 2012 Aug 10;91(2):275-92.
Pereira R, Phillips C, Pinto N, Santos C, Dos Santos SE, Amorim A, Carracedo À, Gusmão L. Straightforward Inference of Ancestry and Admixture Proportions throughAncestry-Informative Insertion Deletion Multiplexing. PLoS One. 2012; 7(1):e29684.
Pickrell JK, Patterson N, Barbieri C, Berthold F, Gerlach L, Güldemann T, Kure B, Mpoloka SW, Nakagawa H, Naumann C, Lipson M, Loh PR, Lachance J, Mountain J, Bustamante CD, Berger B, Tishkoff SA, Henn BM, Stoneking M, Reich D, Pakendorf B. The genetic prehistory of southern Africa. Nat Commun. 2012 Oct 16;3:1143. doi: 10.1038/ncomms2140.
Pickrell JK, Pritchard JK. Inference of population splits and mixtures from genome-wide allele frequency data. PLoS Genet. 2012 Nov;8(11):e1002967. doi: 10.1371/journal.pgen.1002967.
Piras IS, De Montis A, Calò CM, Marini M, Atzori M, Corrias L, Sazzini M, Boattini A, Vona G, Contu L. Genome-wide scan with nearly 700,000 SNPS in two Sardinian sub-populations suggests some regions as candidate targets for positive selection. Eur J Hum Genet. 2012 Apr 25. doi: 10.1038/ejhg.2012.65.
Reddy SB, Rosenberg NA. Refining the relationship between homozygosity and the frequency of the most frequent allele. J Math Biol. 2012 Jan;64(1-2):87-108.
Reich D, Patterson N, Campbell D, Tandon A, Mazieres S, Ray N, Parra MV, Rojas W, Duque C, Mesa N, García LF, Triana O, Blair S, Maestre A, Dib JC, Bravi CM, Bailliet G, Corach D, H&auuml;nemeier T, Bortolini MC, Salzano FM, Petzl-Erler ML, Acuña-Alonzo V, Aguilar-Salinas C, Canizales-Quinteros S, Tusié-Luna T, Riba L, Rodríguez-Cruz M, Lopez-Alarcón M, Coral-Vazquez R, Canto-Cetina T, Silva-Zolezzi I, Fernandez-Lopez JC, Contreras AV, Jimenez-Sanchez G, Gómez-Vázquez MJ, Molina J, Carracedo A, Salas A, Gallo C, Poletti G, Witonsky DB, Alkorta-Aranburu G, Sukernik RI, Osipova L, Fedorova SA, Vasquez R, Villena M, Moreau C, Barrantes R, Pauls D, Excoffier L, Bedoya G, Rothhammer F, Dugoujon JM, Larrouy G, Klitz W, Labuda D, Kidd J, Kidd K, Di Rienzo A, Freimer NB, Price AL, Ruiz-Linares A. Reconstructing Native American population history. Nature. 2012 Aug 16;488(7411):370-4.
San Lucas FA, Rosenberg NA, Scheet P. Haploscope: a tool for the graphical display of haplotype structure in populations. Genet Epidemiol. 2012 Jan;36(1):17-21.
Schlebusch CM, Skoglund P, Sjödin P, Gattepaille LM, Hernandez D, Jay F, Li S, De Jongh M, Singleton A, Blum MG, Soodyall H, Jakobsson M. Genomic Variation in Seven Khoe-San Groups Reveals Adaptation and Complex African History. Science. 2012 Oct 19;338(6105):374-9.
Tucci A, Charlesworth G, Sheerin UM, Plagnol V, Wood NW, Hardy J. Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett. 2012. Apr 23. [Epub ahead of print]
Veeramah KR, Wegmann D, Woerner A, Mendez FL, Watkins JC, Destro-Bisol G, Soodyall H, Louie L, Hammer MF. An early divergence of KhoeSan ancestors from those of other modern humans is supported by an ABC-based analysis of autosomalresequencing data. Mol Biol Evol. 2012 Feb;29(2):617-30.
Wang C, Zöllner S, Rosenberg NA. A quantitative comparison of the similarity between genes and geography in worldwide human populations. PLoS Genet. 2012 Aug;8(8):e1002886. doi: 10.1371/journal.pgen.1002886
Watkins WS, Xing J, Huff C, Witherspoon DJ, Zhang Y, Perego UA, Woodward SR, Jorde LB. Genetic analysis of ancestry, admixture and selection in Bolivian and Totonac populations of the New World. BMC Genet. 2012 May 20;13(1):39.
2011
Bhatia G, Patterson N, Pasaniuc B, Zaitlen N, Genovese G, Pollack S, Mallick S, Myers S, Tandon A, Spencer C, Palmer CD, Adeyemo AA, Akylbekova EL, Cupples LA, Divers J, Fornage M, Kao WH, Lange L, Li M, Musani S, Mychaleckyj JC, Ogunniyi A, Papanicolaou G, Rotimi CN, Rotter JI, Ruczinski I, Salako B, Siscovick DS, Tayo BO, Yang Q, McCarroll S, Sabeti P, Lettre G, De Jager P, Hirschhorn J, Zhu X, Cooper R, Reich D, Wilson JG, Price AL. Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection. Am J Hum Genet. 2011 Sep 9;89(3):368-81.
Boca SM, Rosenberg NA. Mathematical properties of Fst between admixed populations and their parental source populations. Theor Popul Biol. 2011 Nov;80(3):208-16.
Campbell CD, Sampas N, Tsalenko A, Sudmant PH, Kidd JM, Malig M, Vu TH, Vives L, Tsang P, Bruhn L, Eichler EE. Population-genetic properties of differentiated human copy-number polymorphisms. Am J Hum Genet. 2011 Mar 11;88(3):317-32.
Casto AM, Feldman MW. Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations? PLoS Genet. 2011 Jan 6;7(1):e1001266.
Cruciani F, Trombetta B, Massaia A, Destro-Bisol G, Sellitto D, Scozzari R. A revised root for the human y chromosomal phylogenetic tree: the origin of patrilineal diversity in Africa. Am J Hum Genet. 2011 Jun 10;88(6):814-8.
Ding K, Kullo IJ. Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease. BMC Med Genet. 2011 Apr 20;12:55.
Eriksson A, Manica A. Detecting and Removing Ascertainment Bias in Microsatellites from the HGDP-CEPH Panel. G3 (Bethesda). 2011 Nov;1(6):479-88.
Fornarino S, Laval G, Barreiro LB, Manry J, Vasseur E, Quintana-Murci L. Evolution of the TIR domain-containing adaptors in humans: swinging between constraint and adaptation. Mol Biol Evol. 2011 Nov;28(11):3087-97.
Fumagalli M, Sironi M, Pozzoli U, Ferrer-Admettla A, Pattini L, Nielsen R. Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution. PLoS Genet. 2011 Nov;7(11):e1002355.
Ghahramani Seno MM, Kwan BY, Lee-Ng KK, Moessner R, Lionel AC, Marshall CR, Scherer SW. Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene. BMC Med Genet. 2011 Mar 26;12:45.
Guinan KJ. Worldwide Distribution of Type II Diabetes-Associated TCF7L2 SNPs: Evidence for Stratification in Europe. Biochem Genet. 2011 Sep 7. [Epub ahead of print]
Hammer MF, Woerner AE, Mendez FL, Watkins JC, Wall JD. Genetic evidence for archaic admixture in Africa. Proc Natl Acad Sci U S A. 2011 Sep13;108(37):15123-8.
Hancock AM, Clark VJ, Qian Y, Di Rienzo A. Population genetic analysis of the uncoupling proteins supports a role for UCP3 in human cold resistance. Mol Biol Evol. 2011 Jan;28(1):601-14
Hancock AM, Witonsky DB, Alkorta-Aranburu G, Beall CM, Gebremedhin A, Sukernik R, Utermann G, Pritchard JK, Coop G, Di Rienzo A. Adaptations to climate-mediated selective pressures in humans. PLoS Genet. 2011 Apr;7(4):e1001375.
Henn BM, Gignoux CR, Jobin M, Granka JM, Macpherson JM, Kidd JM, Rodríguez-Botigué L, Ramachandran S, Hon L, Brisbin A, Lin AA, Underhill PA, Comas D, Kidd KK, Norman PJ, Parham P, Bustamante CD, Mountain JL, Feldman MW. Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5154-62
Huang L, Jakobsson M, Pemberton TJ, Ibrahim M, Nyambo T, Omar S, Pritchard JK, Tishkoff SA, Rosenberg NA. Haplotype variation and genotype imputation in African populations. Genet Epidemiol. 2011 Dec;35(8):766-80
Konyukh M, Delorme R, Chaste P, Leblond C, Lemière N, Nygren G, Anckarsäter H, Rastam M, Sthalberg O, Amsellem F, Gillberg IC, Mouren-Simeoni MC, Herbrecht E, Fauchereau F, Toro R, Gillberg C, Leboyer M, Bourgeron T. Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations. PLoS One. 2011 Mar 4;6(3):e17289.
Leutenegger AL, Sahbatou M, Gazal S, Cann H, Génin E. Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? Eur J Hum Genet. 2011 May;19(5):583-7.
M DeGiorgio M, Degnan JH, Rosenberg NA. Coalescence-time distributions in a serial founder model of human evolutionary history. Genetics. 2011 Oct;189(2):579-93.
Manry J, Laval G, Patin E, Fornarino S, Itan Y, Fumagalli M, Sironi M, Tichit M, Bouchier C, Casanova JL, Barreiro LB, Quintana-Murci L. Evolutionary genetic dissection of human interferons. J Exp Med. 2011 Dec 19;208(13):2747-59.
Manry J, Laval G, Patin E, Fornarino S, Tichit M, Bouchier C, Barreiro LB, Quintana-Murci L. Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity. Hum Mutat. 2011 Jun; 32(6):633-42.
Metspalu M, Romero IG, Yunusbayev B, Chaubey G, Mallick CB, Hudjashov G, Nelis M, Mägi R, Metspalu E, Remm M, Pitchappan R, Singh L, Thangaraj K, Villems R, Kivisild T. Shared and unique components of human population structure and genome-wide signals of positive selection in South Asia. Am J Hum Genet. 2011 Dec 9;89(6):731-44.
Mirabello L, Yeager M, Chowdhury S, Qi L, Deng X, Wang Z, Hutchinson A, Savage SA. Worldwide genetic structure in 37 genes important in telomere biology. Heredity (Edinb). 2011 Jul 6. doi: 10.1038/hdy.2011.55.
Moorjani P, Patterson N, Hirschhorn JN, Keinan A, Hao L, Atzmon G, Burns E, Ostrer H, Price AL, Reich D. The history of african gene flow into southern Europeans, Levantines, and Jews. PLoS Genet. 2011 Apr;7(4):e1001373.
Narang A, Jha P, Rawat V, Mukhopadhyay A, Dash D; Indian Genome Variation Consortium, Basu A, Mukerji M. Recent admixture in an Indian population of African ancestry. Am J Hum Genet. 2011 Jul 15;89(1):111-20.
Novembre J, Ramachandran S. Perspectives on human population structure at the cusp of the sequencing era. Annu Rev Genomics Hum Genet. 2011 Sep 22;12: 245-74.
Pino-Yanes M, Corrales A, Basaldúa S, Hernández A, Guerra L, Villar J, Flores C. North african influences and potential bias in case-control association studies in the spanish population. PLoS One. 2011 Mar 30;6(3):e18389.
Ramachandran S, Rosenberg NA. A test of the influence of continental axes of orientation on patterns of human gene flow. Am J Phys Anthropol. 2011 Dec;146(4):515-29.
Rasmussen M, Guo X, Wang Y, Lohmueller KE, Rasmussen S, Albrechtsen A, Skotte L, Lindgreen S, Metspalu M, Jombart T, Kivisild T, Zhai W, Eriksson A, Manica A, Orlando L, De La Vega FM, Tridico S, Metspalu E, Nielsen K, Ávila-Arcos MC, Moreno-Mayar JV, Muller C, Dortch J, Gilbert MT, Lund O, Wesolowska A, Karmin M, Weinert LA, Wang B, Li J, Tai S, Xiao F, Hanihara T, van Driem G, Jha AR, Ricaut FX, de Knijff P, Migliano AB, Gallego Romero I, Kristiansen K, Lambert DM, Brunak S, Forster P, Brinkmann B, Nehlich O, Bunce M, Richards M, Gupta R, Bustamante CD, Krogh A, Foley RA, Lahr MM, Balloux F, Sicheritz-Pontén T, Villems R, Nielsen R, Wang J, Willerslev E. An Aboriginal Australian genome reveals separate human dispersals into Asia. Science. 2011 Oct 7;334(6052):94-8.
Reich D, Patterson N, Kircher M, Delfin F, Nandineni MR, Pugach I, Ko AM, Ko YC, Jinam TA, Phipps ME, Saitou N, Wollstein A, Kayser M, Pääbo S, Stoneking M. Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania. Am J Hum Genet. 2011 Oct 7;89(4):516-28.
Rosenberg NA. A Population-Genetic Perspective on the Similarities and Differences among Worldwide Human Populations. Hum Biol. 2011 Dec;83 (6):659-84.
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2010
Aggarwal S, Negi S, Jha P, Singh PK, Stobdan T, Pasha MA, Ghosh S, Agrawal A. Indian Genome Variation Consortium, Prasher B, Mukerji M. EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda. Proc Natl Acad Sci U S A. 2010 Nov 2;107(44):18961-6.
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Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach. PLoS Genet. 2010 Feb 19;6(2):e1000849.
Gil Atzmon, Li Hao, Itsik Pe'er, Christopher Velez, Alexander Pearlman, Pier Francesco Palamara, Bernice Morrow, Eitan Friedman, Carole Oddoux, Edward Burns, Harry Ostrer. Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry. Am J Hum Genet. 2010 June; 86(6):850-859.
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Grossman SR, Shlyakhter I, Karlsson EK, Byrne EH, Morales S, Frieden G, Hostetter E, Angelino E, Garber M, Zuk O, Lander ES, Schaffner SF, Sabeti PC. A composite of multiple signals distinguishes causal variants in regions of positive selection. Science. 2010 Feb 12;327(5967):883-6. doi: 10.1126/science.1183863. Epub 2010 Jan 7. Erratum in: Science. 2012 Feb17;335(6070):796. Shylakhter, Ilya [corrected to Shlyakhter, Ilya]. PMID: 20056855.
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Huyghe JR, Fransen E, Hannula S, Van Laer L, Van Eyken E, Mäki-Torkko E, Aikio P, Sorri M, Huentelman MJ, Camp GV. A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies. Eur J Hum Genet. 2010 Dec 8. [Epub ahead of print]
Ji LD, Xu J, Wu DD, Xie SD, Tang NL, Zhang YP. Association of disease-predisposition polymorphisms of the melatonin receptors and sunshine duration in the global human populations. J Pineal Res. 2010 Mar;48(2):133-41.
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2009
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2008
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. Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis. Hum Mutat. 2008 Oct;29(10):1171-80. doi: 10.1002/humu.20757. PMID: 18470947; PMCID: PMC2689608.
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Bryk J, Hardouin E, Pugach I, Hughes D, Strotmann R, Stoneking M, Myles S. Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation. PLoS One. 2008 May 21;3(5):e2209. doi: 10.1371/journal.pone.0002209. PMID: 18493316; PMCID: PMC2374902.
Colobran R, Comas D, Faner R, Pedrosa E, Anglada R, Pujol-Borrell R, Bertranpetit J, Juan M. Population structure in copy number variation and SNPs in the CCL4L chemokine gene. Genes Immun. 2008 Jun;9(4):279-88. doi: 10.1038/gene.2008.15. Epub 2008 Mar 27. PMID: 18368065.
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. Balancing selection is the main force shaping the evolution of innate immunity genes. J Immunol. 2008 Jul 15;181(2):1315-22. doi: 10.4049/jimmunol.181.2.1315. PMID: 18606686.
Friedlaender JS, Friedlaender FR, Reed FA, Kidd KK, Kidd JR, Chambers GK, Lea RA, Loo JH, Koki G, Hodgson JA, Merriwether DA, Weber JL. The genetic structure of Pacific Islanders. PLoS Genet. 2008 Jan;4(1):e19. doi: 10.1371/journal.pgen.0040019. Erratum in: PLoS Genet. 2008 Mar;4(3). doi: 10.1371/annotation/cbdd11a0-4a29-4e7c-9e4e-c00a184c7777. PMID: 18208337; PMCID: PMC2211537.
Hammer MF, Mendez FL, Cox MP, Woerner AE, Wall JD. Sex-biased evolutionary forces shape genomic patterns of human diversity. PLoS Genet. 2008 Sep26;4(9):e1000202.
Hancock AM, Witonsky DB, Gordon AS, Eshel G, Pritchard JK, Coop G, Di Rienzo A. Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet. 2008 Feb;4(2):e3
He W, Neil S, Kulkarni H, Wright E, Agan BK, Marconi VC, Dolan MJ, Weiss RA, Ahuja SK. 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. 2008 Jul 17;4(1):52-62. doi: 10.1016/j.chom.2008.06.002. PMID: 18621010; PMCID: PMC2562426.
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. Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet. 2008 Nov;40(11):1279-81. doi: 10.1038/ng.228. Epub 2008 Oct 12. PMID: 18849994.
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. Genotype, haplotype and copy-number variation in worldwide human populations. Nature. 2008 Feb 21;451(7181):998-1003. doi: 10.1038/nature06742. PMID: 18288195.
Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF. New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res. 2008 May;18(5):830-8. doi: 10.1101/gr.7172008. Epub 2008 Apr 2. PMID: 18385274; PMCID: PMC2336805.
Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, Cann HM, Barsh GS, Feldman M, Cavalli-Sforza LL, Myers RM. Worldwide human relationships inferred from genome-wide patterns of variation. Science. 2008 Feb 22;319(5866):1100-4. doi: 10.1126/science.1153717. PMID: 18292342.
Myles S, Davison D, Barrett J, Stoneking M, Timpson N. Worldwide population differentiation at disease-associated SNPs. BMC Med Genomics. 2008 Jun 4;1:22. doi: 10.1186/1755-8794-1-22. PMID: 18533027; PMCID: PMC2440747.
Pemberton TJ, Jakobsson M, Conrad DF, Coop G, Wall JD, Pritchard JK, Patel PI, Rosenberg NA. Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India. Ann Hum Genet. 2008 Jul;72(Pt 4):535-46. doi: 10.1111/j.1469-1809.2008.00457.x. Epub 2007 May 30. PMID: 18513279; PMCID: PMC2495051.
Perry GH, Yang F, Marquès-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. Copy number variation and evolution in humans and chimpanzees. Genome Res. 18: 1698-1710, 2008.
Ramachandran S, Rosenberg NA, Feldman MW, Wakeley J. Population differentiation and migration: coalescence times in a two-sex island model for autosomal and X-linked loci. Theor Popul Biol. 2008 Dec;74(4):291-301.
Rosenberg NA, Jakobsson M. The relationship between homozygosity and the frequency of the most frequent allele. Genetics. 2008 Aug;179(4):2027-36.
Serre D, Montpetit A, Paré G, Engert JC, Yusuf S, Keavney B, Hudson TJ, Anand S. Correction of population stratification in large multi-ethnic association studies. PLoS One. 2008 Jan 2;3(1):e1382. doi: 10.1371/journal.pone.0001382. PMID: 18196181; PMCID: PMC2198793.
Szpiech ZA, Jakobsson M, Rosenberg NA. ADZE: a rarefaction approach for counting alleles private to combinations of populations. Bioinformatics. 2008 Nov 1;24(21):2498-504. doi: 10.1093/bioinformatics/btn478. Epub 2008 Sep 8. PMID: 18779233; PMCID: PMC2732282.
Tarazona-Santos E, Bernig T, Burdett L, Magalhaes WC, Fabbri C, Liao J, Redondo RA, Welch R, Yeager M, Chanock SJ. CYBB, an NADPH-oxidase gene: restricted diversity in humans and evidence for differential long-term purifying selection on transmembrane and cytosolic domains. Hum Mutat. 2008 May;29(5):623-32. doi: 10.1002/humu.20667. PMID: 18278805.
Tian C, Kosoy R, Lee A, Ransom M, Belmont JW, Gregersen PK, Seldin MF. Analysis of East Asia genetic substructure using genome-wide SNP arrays. PLoS One. 2008;3(12):e3862. doi: 10.1371/journal.pone.0003862. Epub 2008 Dec 5. PMID: 19057645; PMCID: PMC2587696.
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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.
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. Adaptive evolution of UGT2B17 copy-number variation. Am J Hum Genet. 2008 Sep;83(3):337-46. doi: 10.1016/j.ajhg.2008.08.004. Epub 2008 Aug 28. PMID: 18760392; PMCID: PMC2556428.
2007
Balaresque PL, Ballereau SJ, Jobling MA. Challenges in human genetic diversity: demographic history and adaptation. Hum Mol Genet. 2007 16 Spec No. 2:R134-8.
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Manica A, Amos W, Balloux F, Hanihara T. The effect of ancient population bottlenecks on human phenotypic variation. Nature. 2007 Jul 19;448(7151):346-8. doi: 10.1038/nature05951. PMID: 17637668; PMCID: PMC1978547.
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Nievergelt CM, Libiger O, Schork NJ. Generalized analysis of molecular variance. PLoS Genet. 2007 Apr 6;3(4):e51. doi: 10.1371/journal.pgen.0030051. Epub 2007 Feb 22. PMID: 17411342; PMCID: PMC1847693.
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. Diet and the evolution of human amylase gene copy number variation. Nat Genet. 2007 Oct;39(10):1256-60. doi: 10.1038/ng2123. Epub 2007 Sep 9. PMID: 17828263; PMCID: PMC2377015.
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Santos-Lopes SS, Pereira RW, Wilson IJ, Pena SD. A worldwide phylogeography for the human X chromosome. PLoS One. 2007 Jun 27;2(6):e557. doi: 10.1371/journal.pone.0000557. PMID: 17593958; PMCID: PMC1891433.
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2006
Akey JM, Swanson WJ, Madeoy J, Eberle M, Shriver MD. TRPV6 exhibits unusual patterns of polymorphism and divergence in worldwide populations. Hum Mol Genet. 2006 Jul 1;15(13):2106-13. doi: 10.1093/hmg/ddl134. Epub 2006 May 22. PMID: 16717058.
Bastos-Rodrigues L, Pimenta JR, Pena SD. The genetic structure of human populations studied through short insertion-deletion polymorphisms. Ann Hum Genet. 2006 Sep;70(Pt 5):658-65. doi: 10.1111/j.1469-1809.2006.00287.x. PMID: 16907710.
Conrad DF, Jakobsson M, Coop G, Wen X, Wall JD, Rosenberg NA, Pritchard JK. A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet. 2006 Nov;38(11):1251-60. doi: 10.1038/ng1911. Epub 2006 Oct 22. PMID: 17057719.
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. The portability of tagSNPs across populations: a worldwide survey. Genome Res. 2006 Mar;16(3):323-30. doi: 10.1101/gr.4138406. Epub 2006 Feb 8. PMID: 16467560; PMCID: PMC1415211.
Lao O, van Duijn K, Kersbergen P, de Knijff P, Kayser M. Proportioning whole-genome single-nucleotide-polymorphism diversity for the identification of geographic population structure and genetic ancestry. Am J Hum Genet. 2006 Apr;78(4):680-90. doi: 10.1086/501531. Epub 2006 Feb 14. PMID: 16532397; PMCID: PMC1424693.
Paisan-Ruiz P et al. 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, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet. 2006 Dec;2(12):e190. doi: 10.1371/journal.pgen.0020190. PMID: 17194218; PMCID: PMC1713260.
Pereira RW, Santos SS, Pena SD. A novel polymorphic Alu insertion embedded in a LINE 1 retrotransposon in the human X chromosome (DXS225): identification and worldwide population study. Genet Mol Res. 2006 Mar 31;5(1):63-71. PMID: 16755498.
Rosenberg NA. 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. 2006 Nov;70(Pt 6):841-7. doi: 10.1111/j.1469-1809.2006.00285.x. PMID: 17044859.
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. Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet. 2006 Dec;2(12):e215. doi: 10.1371/journal.pgen.0020215. PMID: 17194221; PMCID: PMC1713257.
Saunders MA, Good JM, Lawrence EC, Ferrell RE, Li WH, Nachman MW. Human adaptive evolution at Myostatin (GDF8), a regulator of muscle growth. Am J Hum Genet. 2006 Dec;79(6):1089-97. doi: 10.1086/509707. Epub 2006 Oct 10. PMID: 17186467; PMCID: PMC1698719.
Soldevila M, Andrés AM, Ramírez-Soriano A, Marquès-Bonet T, Calafell F, Navarro A, Bertranpetit J. The prion protein gene in humans revisited: lessons from a worldwide resequencing study. Genome Res. 2006 Feb;16(2):231-9. doi: 10.1101/gr.4345506. Epub 2005 Dec 20. PMID: 16369046; PMCID: PMC1361719.
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. Spread of an inactive form of caspase-12 in humans is due to recent positive selection. Am J Hum Genet. 2006 Apr;78(4):659-70. doi: 10.1086/503116. Epub 2006 Feb 21. PMID: 16532395; PMCID: PMC1424700.
2005
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.
Barreiro LB, Patin E, Neyrolles O, Cann HM, Gicquel B, Quintana-Murci L. The heritage of pathogen pressures and ancient demography in the human innate-immunity CD209/CD209L region. Am J Hum Genet. 2005 Nov;77(5):869-86. doi: 10.1086/497613. Epub 2005 Sep 29. PMID: 16252244; PMCID: PMC1271393.
Cavalli-Sforza LL. The Human Genome Diversity Project: past, present and future. Nat Rev Genet. 2005 Apr;6(4):333-40. doi: 10.1038/nrg1596. PMID: 15803201.
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. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science. 2005 307:1434-1440
Mekel-Bobrov N, Gilbert SL, Evans PD, Vallender EJ, Anderson JR, Hudson RR, Tishkoff SA, Lahn BT. Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science. 2005 Sep 9;309(5741):1720-2. doi: 10.1126/science.1116815. PMID: 16151010.
Ramachandran S, Deshpande O, Roseman CC, Rosenberg NA, Feldman MW, Cavalli-Sforza LL. 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. 2005 Nov 1;102(44):15942-7. doi: 10.1073/pnas.0507611102. Epub 2005 Oct 21. PMID: 16243969; PMCID: PMC1276087.
Ramírez-Soriano A, Lao O, Soldevila M, Calafell F, Bertranpetit J, Comas D. Haplotype tagging efficiency in worldwide populations in CTLA4 gene. Genes Immun. 2005 Dec;6(8):646-57. doi: 10.1038/sj.gene.6364251. PMID: 16034471.
Rosenberg NA, Mahajan S, Ramachandran S, Zhao C, Pritchard JK, Feldman MW. Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet. 2005 Dec;1(6):e70. doi: 10.1371/journal.pgen.0010070. Epub 2005 Dec 9. PMID: 16355252; PMCID: PMC1310579.
Young JH, Chang YP, Kim JD, Chretien JP, Klag MJ, Levine MA, Ruff CB, Wang NY, Chakravarti A. Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion. PLoS Genet. 2005 Dec;1(6):e82.
2004
Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN. Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet. 2004 Jun;74(6):1111-20. 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. The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett. 2004 Oct 21;369(3):183-5.
González-Neira A, Calafell F, Navarro A, Lao O, Cann H, Comas D, Bertranpetit J. Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22. Hum Genomics. 2004 Nov;1(6):399-409.
Macpherson JM., Ramachandran S, Diamond L, Feldman MW. Demographic estimates from Y chromosome microsatellite polymorphisms: analysis of a worldwide sample. Hum Genomics. 2004 5: 345-354.
Ramachandran S, Rosenberg NA, Zhivotovsky LA, Feldman MW. Robustness of the inference of human population structure: A comparison of X-chromosomal and autosomal microsatellites. Hum Genomics. 2004 Jan;1(2):87-97.
Serre D, Pääbo S Evidence for gradients of human genetic diversity within and among continents. Genome Res. 2004 Sep;14(9):1679-85.
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 The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet. 2004 Jan;74(1):50-61. Epub 2003 Dec 19.
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. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med. 2004 Aug 19;351(8):769-80.
2003
Horton R, Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. Read all about it: The Lancet's Paper of the Year. Lancet. 2003 Dec 20;362(9401):2101-3.
Rosenberg NA, Li LM, Ward R, Pritchard JK. Informativeness of genetic markers for inference of ancestry. Am J Hum Genet. 2003 Dec;73(6):1402-22. Epub 2003 Nov 20.
Shi M, Caprau D, Romitti P, Christensen K, Murray JC. 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 A Clin Mol Teratol. 2003 Aug;67(8):545-9.
Zhivotovsky LA, Rosenberg NA, Feldman MW. Features of evolution of modern humans, inferred from genomewide microsatellite markers. Am J Hum Genet. 2003 May;72(5):1171-86. Epub 2003 Apr 10.
2002
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. A human genome diversity cell line panel. Science. 2002 Apr 12;296(5566):261-2
Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. Genetic structure of human populations. Science. 2002 Dec 20;298(5602):2381-5.