«Pendant des siècles, la Médecine s’est préoccupée de soigner. Aujourd’hui elle s'est donnée comme but de prévenir plutôt que de guérir.»
Pr Jean Dausset, Prix Nobel de Médecine, 1980
La Fondation Jean Dausset - Centre d’Etude du Polymorphisme Humain participe aux efforts nationaux et internationaux de recherche pour mieux déterminer le rôle du polymorphisme génétique chez l’Homme, tout particulièrement dans les maladies complexes, pour mieux les comprendre, les diagnostiquer et participer au développement d’une médecine personnalisée.

Publications related to the HGDP - CEPH Panel


Anders Bergström, Shane A. McCarthy, Ruoyun Hui,Mohamed A. Almarri, Qasim Ayub, Petr Danecek, Yuan Chen, Sabine Felkel, Pille Hallast, Jack Kamm, Hélène Blanché, Jean-François Deleuze, Howard Cann, Swapan Mallick, David Reich, Manjinder S. Sandhu, Pontus Skoglund, Aylwyn Scally, Yali Xue, Richard Durbin, Chris Tyler-Smith Insights into human genetic variation and population history from 929 diverse genomes. Science 20 Mar 2020:Vol. 367, Issue 6484, eaay5012 DOI: 10.1126/science.aay5012

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). pii: eaax2083. doi: 10.1126/science.aax2083.

Swapan Mallick, Heng Li, Mark Lipson, Iain Mathieson, Melissa Gymrek, Fernando Racimo, Mengyao Zhao, Niru Chennagiri, Susanne Nordenfelt, Arti Tandon, Pontus Skoglund, Iosif Lazaridis, Sriram Sankararaman, Qiaomei Fu, Nadin Rohland, Gabriel Renaud, Yaniv Erlich, Thomas Willems, Carla Gallo, Jeffrey P. Spence, Yun S. Song, Giovanni Poletti, Francois Balloux, George van Driem, Peter de Knijff, Irene Gallego Romero, Aashish R. Jha, Doron M. Behar, Claudio M. Bravi, Cristian Capelli, Tor Hervig, Andres Moreno-Estrada, Olga L. Posukh, Elena Balanovska, Oleg Balanovsky, Sena Karachanak-Yankova, Hovhannes Sahakyan, Draga Toncheva, Levon Yepiskoposyan, Chris Tyler-Smith, Yali Xue, M. Syafiq Abdullah, Andres Ruiz-Linares, Cynthia M. Beall, Anna Di Rienzo, Choongwon Jeong, Elena B. Starikovskaya, Ene Metspalu, J¨ri Parik, Richard Villems, Brenna M. Henn, Ugur Hodoglugil, Robert Mahley, Antti Sajantila, George Stamatoyannopoulos, Joseph T. S. Wee, Rita Khusainova, Elza Khusnutdinova, Sergey Litvinov, George Ayodo, David Comas, Michael F. Hammer, Toomas Kivisild, William Klitz, Cheryl A. Winkler, Damian Labuda, Michael Bamshad, Lynn B. Jorde, Sarah A. Tishkoff, W. Scott Watkins, Mait Metspalu, Stanislav Dryomov, Rem Sukernik, Lalji Singh, Kumarasamy Thangaraj, Svante Pääbo, Janet Kelso, Nick Patterson & David Reich The Simons Genome Diversity Project: 300 genomes from 142 diverse populations Nature 538, 201.206 (13 October 2016)

Santos C, Phillips C, Fondevila M, Daniel R, van Oorschot RA, 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.

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.

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. No abstract available. .

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.

Hao W, Song M, Storey JD Probabilistic models of genetic variation in structured populations applied to global human studies. Bioinformatics. 2016 Mar 1;32(5):713-21. doi: 10.1093/bioinformatics/btv641.

Badgeley MA, Shameer K, Glicksberg BS, Tomlinson MS, Levin MA, McCormick PJ, Kasarskis A, Reich DL, Dudley JT EHDViz: clinical dashboard development using open-source technologies. BMJ Open. 2016 Mar 24;6(3):e010579. doi: 10.1136/bmjopen-2015-010579.

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.

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.

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.

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.

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 May 2;534(7606):200-5. doi: 10.1038/nature17993.

Poznik GD, Xue Y, Mendez FL, Willems TF, Massaia A, Wilson Sayres MA, Ayub Q, McCarthy SA, Narechania A, Kashin S, Chen Y, Banerjee R, Rodriguez-Flores JL, Cerezo M, Shao H, Gymrek M, Malhotra A, Louzada S, Desalle R, Ritchie GR, Cerveira E, Fitzgerald TW, Garrison E, Marcketta A, Mittelman D, Romanovitch M, Zhang C, Zheng-Bradley X, Abecasis GR, McCarroll SA, Flicek P, Underhill PA, Coin L, Zerbino DR, Yang F, Lee C, Clarke L, Auton A, Erlich Y, Handsaker RE; 1000 Genomes Project Consortium ,Bustamante CD, Tyler-Smith C. Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. Nat Genet. 2016 Jun;48(6):593-9. doi: 10.1038/ng.3559.

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.

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.

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. .

Skoglund P, Reich D A genomic view of the peopling of the Americas. Curr Opin Genet Dev. 2016 Aug 6;41:27-35. doi: 10.1016/j.gde.2016.06.016. Review.

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.

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, 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 GN, 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, karoV, Mulahasanovic L, Primorac D, Sahakyan H, Mormina M, Eichstaedt CA, Lichman DV, Abdullah S, Chaubey G, Wee JT, Mihailov E, Karunas A, Litvinov S, Khusainova R, Ekomasova N, Akhmetova V, Khidiyatova I, Marjanovi. 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 Sep 21;538(7624):238-242. doi: 10.1038/nature19792.

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 3. doi: 10.1038/nature19844.

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 Sep 21. doi: 10.1038/nature18964.

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.

Zheng X, Weir BS. Eigenanalysis of SNP data with an identity by descent interpretation. Theor Popul Biol. 2016 Feb;107:65-76.

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 Jan 25. pii: 201513197.

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.

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.

Bilgin Sonay T, Carvalho T, Robinson MD, Greminger MP, Kr¨tzen 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.

Wildschutte JH, Baron A, Diroff NM, Kidd JM. Discovery and characterization of Alu repeat sequences via precise local read assembly. Nucleic Acids Res. 2015 Dec 2;43(21):10292-307.

Romanini C, Romero M, Salado Puerto M, Catelli L, Phillips C, Pereira R, Gusmão L, Vullo C. Ancestry informative markers: inference of ancestry in aged bone samples using an autosomal AIM-Indel multiplex. Forensic Sci Int Genet. 2015 May;16:58-63.

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.

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;16:172.

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.

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.

Santos C, Phillips C, Fondevila M, Daniel R, van Oorschot RA, 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. 2015 Oct 20;20:71-80.

Tina Seitz, Robert Stalmann, Nawar Dalila, Jiayin Chen, Sherin Pojar, Joao N. Dos Santos Pereira, Ralph Krätzner, J¨rgen Brockmöller and Mladen V. Tzvetkov Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1 Genome Medicine 2015, 7:56 doi:10.1186/s13073-015-0172-0

Emery LS, Magnaye KM, Bigham AW, Akey JM, Bamshad MJ. Estimates of Continental Ancestry Vary Widely among Individuals with the Same mtDNA Haplogroup. Am J Hum Genet. 2015 Feb 5;96(2):183-93. doi: 10.1016/j.ajhg.2014.12.015. Epub 2015 Jan 22.

HuguetG, Nava C, Lemière N, Patin E, Laval G, Ey E, Brice A, Leboyer M, Szepetowski P, Gillberg C, Depienne C, Delorme R, Bourgeron T. Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders. PLoS One. 2014 Mar 3;9(3):e88600.

Kidd JM, Sharpton TJ, Bobo D, Norman PJ, Martin AR, Carpenter ML, Sikora M, Gignoux CR, Nemat-Gorgani N, Adams A, Guadalupe M, Guo X, Feng Q, Li Y, Liu X, Parham P, Hoal EG, Feldman MW, Pollard KS, Wall JD, Bustamante CD, Henn BM. Exome capture from saliva produces high quality genomic and metagenomic data. BMC Genomics. 2014 Apr 4;15:262.

Raj A, Stephens M, Pritchard JK. fastSTRUCTURE: Variational Inference of Population Structure in Large SNP Data Sets. Genetics. 2014 Apr 2;197(2):573-589.

IorioA, Piacentini S, Polimanti R, De Angelis F, Calderon R, Fuciarelli M. Functional variability of glutathione S-transferases in Basque populations. Am J Hum Biol. 2014 May-Jun;26(3):361-6.

Louwers YV, Lao O, Fauser BC, Kayser M, Laven JS. The impact of self-reported ethnicity versus genetic ancestry on phenotypic characteristics of Polycystic Ovary Syndrome (PCOS). J Clin Endocrinol Metab. 2014 Jun 24:jc20141084.

Freire-AradasA, Ruiz Y, Phillips C, Maroñas O, Söchtig J, Tato AG, Dios JA, de Cal MC, Silbiger VN, Luchessi AD, Luchessi AD, Chiurillo MA, Carracedo A, Lareu MV. Exploring iris colour prediction and ancestry inference in admixed populations of South America. Forensic Sci Int Genet. 2014 Jul 3;13C:3-9.

Martin AR, Costa HA, Lappalainen T, Henn BM, Kidd JM, Yee MC, Grubert F, Cann HM, Snyder M, Montgomery SB, Bustamante CD. Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture. PLoS Genet. 2014 Aug 14;10(8):e1004549.

BergJJ, Coop G. A population genetic signal of polygenic adaptation. PLoS Genet. 2014 Aug 7;10(8):e1004412.

CasariniL, Brigante G. The polycystic ovary syndrome evolutionary paradox: a GWAS-based, in silico, evolutionary explanation. J Clin Endocrinol Metab. 2014 Aug 5:jc20142703.

LipsonM, Loh PR, Patterson N, Moorjani P, Ko YC, Stoneking M, Berger B, Reich D. Reconstructing Austronesian population history in Island Southeast Asia. Nat Commun. 2014 Aug 19;5:4689.

FuQ, Li H, Moorjani P, Jay F, Slepchenko SM, Bondarev AA, Johnson PL, Aximu-Petri A, Pr¨fer K, de Filippo C, Meyer M, Zwyns N, Salazar-García DC, Kuzmin YV, Keates SG, Kosintsev PA, Razhev DI, Richards MP, Peristov NV, Lachmann M, Douka K, Higham TF, Slatkin M, Hublin JJ, Reich D, Kelso J, Viola TB, Pääbo S. Genome sequence of a 45,000-year-old modern human from western Siberia. Nature. 2014 Oct 23;514(7523):445-9.

KaracaS, Karaca M, Cesuroglu T, Erge S, Polimanti R. GSTM1, GSTP1, and GSTT1 genetic variability in Turkish and worldwide populations. Am J Hum Biol. 2014 Dec 16.

Raghavan M, Skoglund P, Graf KE, Metspalu M, Albrechtsen A, Moltke I, Rasmussen S, Stafford TW Jr, Orlando L, Metspalu E, Karmin M, Tambets K, Rootsi S, Mägi R, Campos PF, Balanovska E, Balanovsky O, Khusnutdinova E, Litvinov S, Osipova LP, Fedorova SA, Voevoda MI, DeGiorgio M, Sicheritz-Ponten T, Brunak S, Demeshchenko S, Kivisild T, Villems R, Nielsen R, Jakobsson M, Willerslev E Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans Nature 2014 Jan 2;505(7481):87-91

Phillips C, Fernandez-Formoso L, Gelabert-Besada M, García-Magariños M, Amigo J, Carracedo A, Lareu MV Global population variability in Qiagen Investigator HDplex STRs Forensic Sci Int Genet 2014 Jan;8(1):36-43 doi: 10.1016/j.fsigen.2013.07.006 Epub 2013 Sep 7

Prüfer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C, Li H, Mallick S, Dannemann M, Fu Q, Kircher M, Kuhlwilm M, Lachmann M, Meyer M, Ongyerth M, Siebauer M, Theunert C, Tandon A, Moorjani P, Pickrell J, Mullikin JC, Vohr SH, Green RE, Hellmann I, Johnson PL, Blanche H, Cann H, Kitzman JO, Shendure J, Eichler EE, Lein ES, Bakken TE, Golovanova LV, Doronichev VB, Shunkov MV, Derevianko AP, Viola B, Slatkin M, Reich D, Kelso J, Pääbo S The complete genome sequence of a Neanderthal from the Altai Mountains Nature 2014 Jan 2;505(7481):43-9 doi: 10.1038/nature12886 Epub 2013 Dec 18

Vitalis R, Gautier M, Dawson KJ, Beaumont MA Detecting and Measuring Selection from Gene Frequency Data Genetics 2013 Dec 20

Alsmadi O, Thareja G, Alkayal F, Rajagopalan R, John SE, Hebbar P, Behbehani K, Thanaraj TA Genetic substructure of Kuwaiti population reveals migration history PLoS One 2013 Sep 16;8(9):e74913

Aigner J, Villatoro S, Rabionet R, Roquer J, Jiménez-Conde J, Martí E, Estivill X A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein BMC Genet 2013 Jul 6;14:61 doi: 10.1186/1471-2156-14-61

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

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.

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

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.

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

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

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.

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.

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

Gumus E, Gormez Z, Kursun O Multi objective SNP selection using pareto optimality Comput Biol Chem 2013 Apr;43:23-8

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

Di Cristofaro J, Pennarun E, Mazières S, Myres NM, Lin AA, Temori SA, Metspalu M, Metspalu E, Witzel M, King RJ, Underhill PA, Villems R, Chiaroni J Afghan hindu kush: where eurasian sub-continent gene flows converge PLoS One 2013 Oct 18;8(10):e76748

Phillips C, Kind S, Fernandez-Formoso L, Gelabert-Besada M, Carracedo A, Lareu MV Global population variability in Promega PowerPlex CS7, D6S1043, and Penta B STRs Int J Legal Med 2013 Sep;127(5):901-6.

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

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.

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