Here is a list my publications

Accepted articles / in press



Published peer reviewed articles

2017

84. Librado P, Gamba C, Gaunitz C, Der Sarkissian C, Pruvost M, Albrechtsen A, Fages A, Khan N, Schubert M, Jagannathan V, Serres-Armero A, Kuderna LFK, Povolotskaya IS, Seguin-Orlando A, Lepetz S, Neuditschko M, Thèves C, Alquraishi S, Alfarhan AH, Orlando L. Ancient genomic changes associated with domestication of the horse. Science, 2017, vol. 356, no. 6336, pp. 442-445, 2017

2016

83. Racimo F, Gokhman D, Fumagalli M, Ko A, Hansen T, Moltke I, Albrechtsen A, Carmel L, Huerta-Sánchez E, Nielsen R. Archaic adaptive introgression in TBX15/WARS2. Molecular biology and evolution, 2016, 2016

82. Pedersen CT, Lohmueller KE, Grarup N, Bjerregaard P, Hansen T, Siegismund HR, Moltke I, Albrechtsen A. The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit. Genetics, 2016, 2016

81. Rossing M, Albrechtsen A, Skytte AB, Jensen UB, Ousager LB, Gerdes AM, Nielsen FC, Hansen TV. Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. Journal of human genetics, 2016, 2016

80. Malaspinas AS, Westaway MC, Muller C, Sousa VC, Lao O, Alves I, Bergström A, Athanasiadis G, Cheng JY, Crawford JE, Heupink TH, Macholdt E, Peischl S, Rasmussen S, Schiffels S, Subramanian S, Wright JL, Albrechtsen A, Barbieri C, Dupanloup I. A genomic history of Aboriginal Australia. Nature, 2016, 2016

79. Andersen MK, Pedersen CE, Moltke I, Hansen T, Albrechtsen A, Grarup N. Genetics of Type 2 Diabetes: the Power of Isolated Populations. Current diabetes reports, 2016, vol. 16, no. 7, pp. 65

78. Andersen MK, Jørsboe E, Sandholt CH, Grarup N, Jørgensen ME, Færgeman NJ, Bjerregaard P, Pedersen O, Moltke I, Hansen T, Albrechtsen A. Identification of Novel Genetic Determinants of Erythrocyte Membrane Fatty Acid Composition among Greenlanders. PLoS genetics, 2016, vol. 12, no. 6, pp. e1006119

77. da Fonseca RR, Albrechtsen A, Themudo GE, Ramos-Madrigal J, Sibbesen JA, Maretty L, Zepeda-Mendoza ML, Campos PF, Heller R, Pereira RJ. Next-generation biology: Sequencing and data analysis approaches for non-model organisms. Marine genomics, 2016

76. Vieira FG, Albrechtsen A, Nielsen R. Estimating IBD tracts from low coverage NGS data. Bioinformatics, 2016

75. Sveinbjornsson G, Albrechtsen A, Zink F, Gudjonsson SA, Oddson A, Másson G, Holm H, Kong A, Thorsteinsdottir U, Sulem P, Gudbjartsson DF, Stefansson K. Weighting sequence variants based on their annotation increases power of whole-genome association studies. Nature genetics, 2016

2015

74. Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. Partial USH2A deletions contribute to Usher syndrome in Denmark. European journal of human genetics EJHG, 2015, vol. 23, no. 12, pp. 1646-1651

73. Librado P, Der Sarkissian C, Ermini L, Schubert M, Jónsson H, Albrechtsen A, Fumagalli M, Yang MA, Gamba C, Seguin-Orlando A, Mortensen CD, Petersen B, Hoover CA, Lorente-Galdos B, Nedoluzhko A, Boulygina E, Tsygankova S, Neuditschko M, Jagannathan V, Thèves C. Tracking the origins of Yakutian horses and the genetic basis for their fast adaptation to subarctic environments. Proceedings of the National Academy of Sciences of the United States of America, 2015

72. Der Sarkissian C, Ermini L, Schubert M, Yang MA, Librado P, Fumagalli M, Jónsson H, Bar-Gal GK, Albrechtsen A, Vieira FG, Petersen B, Ginolhac A, Seguin-Orlando A, Magnussen K, Fages A, Gamba C, Lorente-Galdos B, Polani S, Steiner C, Neuditschko M, Jagannathan V, Feh C, Greenblatt CL, Ludwig A, Abramson NI, Zimmermann W, Schafberg R, Tikhonov A, Sicheritz-Ponten T, Willerslev E, Marques-Bonet T, Ryder OA, McCue M, Rieder S, Leeb T, Slatkin M, Orlando L. Evolutionary Genomics and Conservation of the Endangered Przewalski's Horse. Current biology, 2015

71. Fumagalli M, Moltke I, Grarup N, Racimo F, Bjerregaard P, Jørgensen ME, Korneliussen TS, Gerbault P, Skotte L, Linneberg A, Christensen C, Brandslund I, Jørgensen T, Huerta-Sánchez E, Schmidt EB, Pedersen O, Hansen T, Albrechtsen A, Nielsen R. Greenlandic Inuit show genetic signatures of diet and climate adaptation. Science, 2015, vol. 349, no. 6254, pp. 1343-1347

70. Raghavan M, Steinrücken M, Harris K, Schiffels S, Rasmussen S, DeGiorgio M, Albrechtsen A, Valdiosera C, Ávila-Arcos MC, Malaspinas AS, Eriksson A, Moltke I, Metspalu M, Homburger JR, Wall J, Cornejo OE, Moreno-Mayar JV, Korneliussen TS, Pierre T, Rasmussen M, Campos PF, Damgaard PB, Allentoft ME, Lindo J, Metspalu E, Rodríguez-Varela R, Mansilla J, Henrickson C, Seguin-Orlando A, Malmström H, Stafford T Jr, Shringarpure SS, Moreno-Estrada A, Karmin M, Tambets K, Bergström A, Xue Y, Warmuth V, Friend AD, Singarayer J, Valdes P, Balloux F, Leboreiro I, Vera JL, Rangel-Villalobos H, Pettener D, Luiselli D, Davis LG, Heyer E, Zollikofer CP, Ponce de León MS, Smith CI, Grimes V, Pike KA, Deal M, Fuller BT, Arriaza B, Standen V, Luz MF, Ricaut F, Guidon N, Osipova L, Voevoda MI, Posukh OL, Balanovsky O, Lavryashina M, Bogunov Y, Khusnutdinova E, Gubina M, Balanovska E, Fedorova S, Litvinov S, Malyarchuk B, Derenko M, Mosher MJ, Archer D, Cybulski J, Petzelt B, Mitchell J, Worl R, Norman PJ, Parham P, Kemp BM, Kivisild T, Tyler-Smith C, Sandhu MS, Crawford M, Villems R, Smith DG, Waters MR, Goebel T, Johnson JR, Malhi RS, Jakobsson M, Meltzer DJ, Manica A, Durbin R, Bustamante CD, Song YS, Nielsen R, Willerslev E. Genomic evidence for the Pleistocene and recent population history of Native Americans. Science, 2015

69. Rasmussen M, Sikora M, Albrechtsen A, Korneliussen TS, Moreno-Mayar JV, Poznik GD, Zollikofer CP, Ponce de León MS, Allentoft ME, Moltke I, Jónsson H, Valdiosera C, Malhi RS, Orlando L, Bustamante CD, Stafford TW Jr, Meltzer DJ, Nielsen R, Willerslev E. The ancestry and affiliations of Kennewick Man. Nature, 2015

68. Grarup N, Moltke I, Albrechtsen A, Hansen T. Diabetes in Population Isolates: Lessons from Greenland. The review of diabetic studies RDS, 2015, vol. 12, no. 3-4, pp. 320-329

67. da Fonseca RR, Smith BD, Wales N, Cappellini E, Skoglund P, Fumagalli M, Samaniego JA, Carøe C, Ávila-Arcos MC, Hufnagel DE, Korneliussen TS, Vieira FG, Jakobsson M, Arriaza B, Willerslev E, Nielsen R, Hufford MB, Albrechtsen A, Ross-Ibarra J, Gilbert MT. The origin and evolution of maize in the Southwestern United States. Nature plants, 2015, vol. 1, pp. 14003, 2015

2014

66. Laursen JH, Søndergaard HB, Albrechtsen A, Frikke-Schmidt R, Koch-Henriksen N, Soelberg Sørensen P, Sellebjerg F, Oturai A, Multiple sclerosis (Houndmills, Basingstoke, England), 2014 Genetic and environmental determinants of 25-hydroxyvitamin D levels in multiple sclerosis.

65. Schubert M, Jónsson H, Chang D, Der Sarkissian C, Ermini L, Ginolhac A, Albrechtsen A, Dupanloup I, Foucal A, Petersen B, Fumagalli M, Raghavan M, Seguin-Orlando A, Korneliussen TS, Velazquez AM, Stenderup J, Hoover CA, Rubin CJ, Alfarhan AH, Alquraishi SA, Al-Rasheid KA, MacHugh DE, Kalbfleisch T, MacLeod JN, Rubin EM, Sicheritz-Ponten T, Andersson L, Hofreiter M, Marques-Bonet T, Gilbert MT, Nielsen R, Excoffier L, Willerslev E, Shapiro B, Orlando L. Prehistoric genomes reveal the genetic foundation and cost of horse domestication. Proceedings of the National Academy of Sciences of the United States of America, 2014

64. Jónsson H, Schubert M, Seguin-Orlando A, Ginolhac A, Petersen L, Fumagalli M, Albrechtsen A, Petersen B, Korneliussen TS, Vilstrup JT, Lear T, Myka JL, Lundquist J, Miller DC, Alfarhan AH, Alquraishi SA, Al-Rasheid KA, Stagegaard J, Strauss G, Bertelsen MF, Sicheritz-Ponten T, Antczak DF, Bailey E, Nielsen R, Willerslev E, Orlando L. Speciation with gene flow in equids despite extensive chromosomal plasticity. Proceedings of the National Academy of Sciences of the United States of America, 2014

63. Moltke I, Fumagalli M, Korneliussen TS, Crawford JE, Bjerregaard P, Jørgensen ME, Grarup N, Gulløv HC, Linneberg A, Pedersen O, Hansen T, Nielsen R, Albrechtsen A. Uncovering the Genetic History of the Present-Day Greenlandic Population. American journal of human genetics, 2014

62. Korneliussen T, Albrechtsen A, Nielsen R. ANGSD: Analysis of Next Generation Sequencing Data. BMC bioinformatics, 2014, vol. 15, no. 1, pp. 356

61. Seguin-Orlando A, Korneliussen TS, Sikora M, Malaspinas AS, Manica A, Moltke I, Albrechtsen A, Ko A, Margaryan A, Moiseyev V, Goebel T, Westaway M, Lambert D, Khartanovich V, Wall JD, Nigst PR, Foley RA, Lahr MM, Nielsen R, Orlando L, Willerslev E. Genomic structure in Europeans dating back at least 36,200 years. Science, 2014

60. Malaspinas AS, Lao O, Schroeder H, Rasmussen M, Raghavan M, Moltke I, Campos PF, Sagredo FS, Rasmussen S, Gonçalves VF, Albrechtsen A, Allentoft ME, Johnson PL, Li M, Reis S, Bernardo DV, DeGiorgio M, Duggan AT, Bastos M, Wang Y, Stenderup J, Moreno-Mayar JV, Brunak S, Sicheritz-Ponten T, Hodges E, Hannon GJ, Orlando L, Price TD, Jensen JD, Nielsen R, Heinemeier J, Olsen J, Rodrigues-Carvalho C, Lahr MM, Neves WA, Kayser M, Higham T, Stoneking M, Pena SD, Willerslev E. Two ancient human genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil. Current biology, 2014, vol. 24, no. 21, pp. R1035-R1037

59. Moltke I, Grarup N, Jørgensen ME, Bjerregaard P, Treebak JT, Fumagalli M, Korneliussen TS, Andersen MA, Nielsen TS, Krarup NT, Gjesing AP, Zierath JR, Linneberg A, Wu X, Sun G, Jin X, Al-Aama J, Wang J, Borch-Johnsen K, Pedersen O, Nielsen R, Albrechtsen A, Hansen T. A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. Nature, 2014, vol. 512, no. 7513, pp. 190-193

58. Raghavan M, DeGiorgio M, Albrechtsen A, Moltke I, Skoglund P, Korneliussen TS, Grønnow B, Appelt M, Gulløv HC, Friesen TM, Fitzhugh W, Malmström H, Rasmussen S, Olsen J, Melchior L, Fuller BT, Fahrni SM, Stafford T Jr, Grimes V, Renouf MA, Cybulski J, Lynnerup N, Lahr MM, Britton K, Knecht R, Arneborg J, Metspalu M, Cornejo OE, Malaspinas AS, Wang Y, Rasmussen M, Raghavan V, Hansen TV, Khusnutdinova E, Pierre T, Dneprovsky K, Andreasen C, Lange H, Hayes MG, Coltrain J, Spitsyn VA, Götherström A, Orlando L, Kivisild T, Villems R, Crawford MH, Nielsen FC, Dissing J, Heinemeier J, Meldgaard M, Bustamante C, O'Rourke DH, Jakobsson M, Gilbert MT, Nielsen R, Willerslev E. The genetic prehistory of the New World Arctic. Science, 2014, vol. 345, no. 6200, pp. 1255832

57. Moltke I, Albrechtsen A. RelateAdmix: a software tool for estimating relatedness between admixed individuals. Bioinformatics, 2014, vol. 30, no. 7, pp. 1027-1028

56. Rasmussen M, Anzick SL, Waters MR, Skoglund P, DeGiorgio M, Stafford TW Jr, Rasmussen S, Moltke I, Albrechtsen A, Doyle SM, Poznik GD, Gudmundsdottir V, Yadav R, Malaspinas AS, White SS 5th, Allentoft ME, Cornejo OE, Tambets K, Eriksson A, Heintzman PD, Karmin M, Korneliussen TS, Meltzer DJ, Pierre TL, Stenderup J, Saag L, Warmuth VM, Lopes MC, Malhi RS, Brunak S, Sicheritz-Ponten T, Barnes I, Collins M, Orlando L, Balloux F, Manica A, Gupta R, Metspalu M, Bustamante CD, Jakobsson M, Nielsen R, Willerslev E. The genome of a Late Pleistocene human from a Clovis burial site in western Montana. Nature, 2014, vol. 506, no. 7487, pp. 225-229

55. 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, vol. 505, no. 7481, pp. 87-91

54. Li S, Besenbacher S, Li Y, Kristiansen K, Grarup N, Albrechtsen A, Sparsø T, Korneliussen T, Hansen T, Wang J, Nielsen R, Pedersen O, Bolund L, Schierup MH. Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population. European journal of human genetics EJHG, 2014

2013

53. Lohmueller KE, Sparsø T, Li Q, Andersson E, Korneliussen T, Albrechtsen A, Banasik K, Grarup N, Hallgrimsdottir I, Kiil K, Kilpeläinen TO, Krarup NT, Pers TH, Sanchez G, Hu Y, Degiorgio M, Jørgensen T, Sandbæk A, Lauritzen T, Brunak S, Kristiansen K, Li Y, Hansen T, Wang J, Nielsen R, Pedersen O. Whole-exome sequencing of 2,000 danish individuals and the role of rare coding variants in type 2 diabetes. American journal of human genetics, 2013, vol. 93, no. 6, pp. 1072-1086

52. Vieira FG, Fumagalli M, Albrechtsen A, Nielsen R. Estimating inbreeding coefficients from NGS data: Impact on genotype calling and allele frequency estimation. Genome research, 2013, vol. 23, no. 11, pp. 1852-1861

51. Skotte L, Korneliussen TS, Albrechtsen A. Estimating individual admixture proportions from next generation sequencing data. Genetics, 2013, vol. 195, no. 3, pp. 693-702

50. Fumagalli M, Vieira FG, Korneliussen TS, Linderoth T, Huerta-Sánchez E, Albrechtsen A, Nielsen R. Quantifying population genetic differentiation from next-generation sequencing data. Genetics, 2013, vol. 195, no. 3, pp. 979-992

49. Korneliussen TS, Moltke I, Albrechtsen A, Nielsen R. Calculation of Tajima's D and other neutrality test statistics from low depth next-generation sequencing data. BMC bioinformatics, 2013, vol. 14, no. 1, pp. 289

48. Orlando L, Ginolhac A, Zhang G, Froese D, Albrechtsen A, Stiller M, Schubert M, Cappellini E, Petersen B, Moltke I, Johnson PL, Fumagalli M, Vilstrup JT, Raghavan M, Korneliussen T, Malaspinas AS, Vogt J, Szklarczyk D, Kelstrup CD, Vinther J, Dolocan A, Stenderup J, Velazquez AM, Cahill J, Rasmussen M, Wang X, Min J, Zazula GD, Seguin-Orlando A, Mortensen C, Magnussen K, Thompson JF, Weinstock J, Gregersen K, Røed KH, Eisenmann V, Rubin CJ, Miller DC, Antczak DF, Bertelsen MF, Brunak S, Al-Rasheid KA, Ryder O, Andersson L, Mundy J, Krogh A, Gilbert MT, Kjær K, Sicheritz-Ponten T, Jensen LJ, Olsen JV, Hofreiter M, Nielsen R, Shapiro B, Wang J, Willerslev E. Recalibrating Equus evolution using the genome sequence of an early Middle Pleistocene horse. Nature, 2013, vol. 499, no. 7456, pp. 74-78

47. Grarup N, Sulem P, Sandholt CH, Thorleifsson G, Ahluwalia TS, Steinthorsdottir V, Bjarnason H, Gudbjartsson DF, Magnusson OT, Sparsø T, Albrechtsen A, Kong A, Masson G, Tian G, Cao H, Nie C, Kristiansen K, Husemoen LL, Thuesen B, Li Y, Nielsen R, Linneberg A, Olafsson I, Eyjolfsson GI, Jørgensen T, Wang J, Hansen T, Thorsteinsdottir U, Stefánsson K, Pedersen O. Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. PLoS genetics, 2013, vol. 9, no. 6, pp. e1003530

46. Albrechtsen A, Grarup N, Li Y, Sparsø T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, Nie C, Wu R, Skotte L, Morris AP, Ladenvall C, Cauchi S, Stančáková A, Andersen G, Astrup A, Banasik K, Bennett AJ, Bolund L, Charpentier G, Chen Y, Dekker JM, Doney AS, Dorkhan M, Forsen T, Frayling TM, Groves CJ, Gui Y, Hallmans G, Hattersley AT, He K, Hitman GA, Holmkvist J, Huang S, Jiang H, Jin X, Justesen JM, Kristiansen K, Kuusisto J, Lajer M, Lantieri O, Li W, Liang H, Liao Q, Liu X, Ma T, Ma X, Manijak MP, Marre M, Mokrosiński J, Morris AD, Mu B, Nielsen AA, Nijpels G, Nilsson P, Palmer CN, Rayner NW, Renström F, Ribel-Madsen R, Robertson N, Rolandsson O, Rossing P, Schwartz TW, D.E.S.I.R. Study Group, Slagboom PE, Sterner M, DIAGRAM Consortium, Tang M, Tarnow L, Tuomi T, van't Riet E, van Leeuwen N, Varga TV, Vestmar MA, Walker M, Wang B, Wang Y, Wu H, Xi F, Yengo L, Yu C, Zhang X, Zhang J, Zhang Q, Zhang W, Zheng H, Zhou Y, Altshuler D, 't Hart LM, Franks PW, Balkau B, Froguel P, McCarthy MI, Laakso M, Groop L, Christensen C, Brandslund I, Lauritzen T, Witte DR, Linneberg A, Jørgensen T, Hansen T, Wang J, Nielsen R, Pedersen O. Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia, 2013, vol. 56, no. 2, pp. 298-310

45. Larsen MH, Albrechtsen A, Thørner LW, Werge T, Hansen T, Gether U, Haastrup E, Ullum H. Genome-Wide Association Study of Genetic Variants in LPS-Stimulated IL-6, IL-8, IL-10, IL-1ra and TNF-α Cytokine Response in a Danish Cohort. PloS one, 2013, vol. 8, no. 6, pp. e66262

2012

44. Skotte L, Korneliussen TS, Albrechtsen A. Association testing for next-generation sequencing data using score statistics. Genetic epidemiology, 2012, vol. 36, no. 5, pp. 430-437

43. Nielsen R, Korneliussen T, Albrechtsen A, Li Y, Wang J. SNP calling, genotype calling, and sample allele frequency estimation from New-Generation Sequencing data. PloS one, 2012, vol. 7, no. 7, pp. e37558

2011

42. 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, vol. 334, no. 6052, pp. 94-98

41. Lohmueller KE, Albrechtsen A, Li Y, Kim SY, Korneliussen T, Vinckenbosch N, Tian G, Huerta-Sanchez E, Feder AF, Grarup N, Jørgensen T, Jiang T, Witte DR, Sandbæk A, Hellmann I, Lauritzen T, Hansen T, Pedersen O, Wang J, Nielsen R. Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genome. PLoS genetics, 2011, vol. 7, no. 10, pp. e1002326

40. Moltke I, Albrechtsen A, Hansen TV, Nielsen FC, Nielsen R. A method for detecting IBD regions simultaneously in multiple individuals—with applications to disease genetics. Genome research, 2011, vol. 21, no. 7, pp. 1168-1180

39. Nielsen R, Paul JS, Albrechtsen A, Song YS. Genotype and SNP calling from next-generation sequencing data. Nature reviews. Genetics, 2011, vol. 12, no. 6, pp. 443-451

38. Kim SY, Lohmueller KE, Albrechtsen A, Li Y, Korneliussen T, Tian G, Grarup N, Jiang T, Andersen G, Witte D, Jorgensen T, Hansen T, Pedersen O, Wang J, Nielsen R. Estimation of allele frequency and association mapping using next-generation sequencing data. BMC bioinformatics, 2011, vol. 12, pp. 231

2010

37. Albrechtsen A, Nielsen FC, Nielsen R. Ascertainment biases in SNP chips affect measures of population divergence. Molecular biology and evolution, 2010, vol. 27, no. 11, pp. 2534-2547

36. Hansen TV, Jønson L, Albrechtsen A, Steffensen AY, Bergsten E, Myrhøj T, Ejlertsen B, Nielsen FC. Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer. Breast cancer research and treatment, 2010, vol. 124, no. 1, pp. 259-264

35. Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparsø T, Tang M, Wu H, Wu R, Yu C, Zheng H, Astrup A, Bolund L, Holmkvist J, Jørgensen T, Kristiansen K, Schmitz O, Schwartz TW, Zhang X, Li R, Yang H, Wang J, Hansen T, Pedersen O, Nielsen R, Wang J. Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nature genetics, 2010, vol. 42, no. 11, pp. 969-972

34. Dad S, Østergaard E, Thykjaer T, Albrechtsen A, Ravn K, Rosenberg T, Møller LB. Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. Clinical genetics, 2010, vol. 78, no. 4, pp. 388-397

33. Albrechtsen A, Moltke I, Nielsen R. Natural selection and the distribution of identity-by-descent in the human genome. Genetics, 2010, vol. 186, no. 1, pp. 295-308

32. Axelsson E, Albrechtsen A, van AP, Li L, Megens HJ, Vereijken AL, Crooijmans RP, Groenen MA, Ellegren H, Willerslev E, Nielsen R. Segregation distortion in chicken and the evolutionary consequences of female meiotic drive in birds. Heredity, 2010, vol. 105, no. 3, pp. 290-298

31. Sandholt CH, Sparsø T, Grarup N, Albrechtsen A, Almind K, Hansen L, Toft U, Jørgensen T, Hansen T, Pedersen O. Combined analyses of 20 common obesity susceptibility variants. Diabetes, 2010, vol. 59, no. 7, pp. 1667-1673

30. Fosgerau K, Galle P, Hansen T, Albrechtsen A, Rieper Cde L, Pedersen BK, Larsen LK, Thomsen AR, Pedersen O, Hansen MB, Steensberg A. Interleukin-6 autoantibodies are involved in the pathogenesis of a subset of type 2 diabetes. The Journal of endocrinology, 2010, vol. 204, no. 3, pp. 265-273

29. Rasmussen M, Li Y, Lindgreen S, Pedersen JS, Albrechtsen A, Moltke I, Metspalu M, Metspalu E, Kivisild T, Gupta R, Bertalan M, Nielsen K, Gilbert MT, Wang Y, Raghavan M, Campos PF, Kamp HM, Wilson AS, Gledhill A, Tridico S, Bunce M, Lorenzen ED, Binladen J, Guo X, Zhao J, Zhang X, Zhang H, Li Z, Chen M, Orlando L, Kristiansen K, Bak M, Tommerup N, Bendixen C, Pierre TL, Grønnow B, Meldgaard M, Andreasen C, Fedorova SA, Osipova LP, Higham TF, Ramsey CB, Hansen TV, Nielsen FC, Crawford MH, Brunak S, Sicheritz-Pontén T, Villems R, Nielsen R, Krogh A, Wang J, Willerslev E. Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature, 2010, vol. 463, no. 7282, pp. 757-762

28. Gjesing AP, Larsen LH, Torekov SS, Hainerová IA, Kapur R, Johansen A, Albrechtsen A, Boj S, Holst B, Harper A, Urhammer SA, Borch-Johnsen K, Pisinger C, Echwald SM, Eiberg H, Astrup A, Lebl J, Ferrer J, Schwartz TW, Hansen T, Pedersen O. Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity. PloS one, 2010, vol. 5, no. 4, pp. e10084

2009

27. Rose CS, Grarup N, Krarup NT, Poulsen P, Wegner L, Nielsen T, Banasik K, Faerch K, Andersen G, Albrechtsen A, Borch-Johnsen K, Clausen JO, Jørgensen T, Vaag A, Pedersen O, Hansen T. A variant in the G6PC2/ABCB11 locus is associated with increased fasting plasma glucose, increased basal hepatic glucose production and increased insulin release after oral and intravenous glucose loads. Diabetologia, 2009, vol. 52, no. 10, pp. 2122-2129

26. Rung J, Cauchi S, Albrechtsen A, Shen L, Rocheleau G, Cavalcanti-Proença C, Bacot F, Balkau B, Belisle A, Borch-Johnsen K, Charpentier G, Dina C, Durand E, Elliott P, Hadjadj S, Järvelin MR, Laitinen J, Lauritzen T, Marre M, Mazur A, Meyre D, Montpetit A, Pisinger C, Posner B, Poulsen P, Pouta A, Prentki M, Ribel-Madsen R, Ruokonen A, Sandbaek A, Serre D, Tichet J, Vaxillaire M, Wojtaszewski JF, Vaag A, Hansen T, Polychronakos C, Pedersen O, Froguel P, Sladek R. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nature genetics, 2009, vol. 41, no. 10, pp. 1110-1115

25. Sparsø T, Grarup N, Andreasen C, Albrechtsen A, Holmkvist J, Andersen G, Jørgensen T, Borch-Johnsen K, Sandbaek A, Lauritzen T, Madsbad S, Hansen T, Pedersen O. Combined analysis of 19 common validated type 2 diabetes susceptibility gene variants shows moderate discriminative value and no evidence of gene-gene interaction. Diabetologia, 2009, vol. 52, no. 7, pp. 1308-1314

24. Hansen TV, Ejlertsen B, Albrechtsen A, Bergsten E, Bjerregaard P, Hansen T, Myrhøj T, Nielsen PB, Timmermans-Wielenga V, Andersen MK, Jønson L, Nielsen FC. A common Greenlandic Inuit BRCA1 RING domain founder mutation. Breast cancer research and treatment, 2009, vol. 115, no. 1, pp. 69-76

23. Nielsen R, Hubisz MJ, Hellmann I, Torgerson D, Andrés AM, Albrechtsen A, Gutenkunst R, Adams MD, Cargill M, Boyko A, Indap A, Bustamante CD, Clark AG. Darwinian and demographic forces affecting human protein coding genes. Genome research, 2009, vol. 19, no. 5, pp. 838-849

22. Hansen Tv, Jønson L, Albrechtsen A, Andersen MK, Ejlertsen B, Nielsen FC. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families. Breast cancer research and treatment, 2009, vol. 115, no. 2, pp. 315-323

21. Albrechtsen A, Sand Korneliussen T, Moltke I, van Overseem Hansen T, Nielsen FC, Nielsen R. Relatedness mapping and tracts of relatedness for genome-wide data in the presence of linkage disequilibrium. Genetic epidemiology, 2009, vol. 33, no. 3, pp. 266-274

20. Gylvin T, Ek J, Nolsøe R, Albrechtsen A, Andersen G, Bergholdt R, Brorsson C, Bang-Berthelsen CH, Hansen T, Karlsen AE, Billestrup N, Borch-Johnsen K, Jørgensen T, Pedersen O, Mandrup-Poulsen T, Nerup J, Pociot F, Diabetes. Functional SOCS1 polymorphisms are associated with variation in obesity in whites. obesity and metabolism, 2009, vol. 11, no. 3, pp. 196-203

19. Pers TH, Albrechtsen A, Holst C, Sørensen TI, Gerds TA. The validation and assessment of machine learning: a game of prediction from high-dimensional data. PloS one, 2009, vol. 4, no. 8, pp. e6287

2008

18. Grarup N, Andersen G, Krarup NT, Albrechtsen A, Schmitz O, Jørgensen T, Borch-Johnsen K, Hansen T, Pedersen O. Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes. Diabetes, 2008, vol. 57, no. 9, pp. 2534-2540

17. Sparsø T, Andersen G, Albrechtsen A, Jørgensen T, Borch-Johnsen K, Sandbaek A, Lauritzen T, Wasson J, Permutt MA, Glaser B, Madsbad S, Pedersen O, Hansen T. Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation. Diabetologia, 2008, vol. 51, no. 9, pp. 1646-1652

16. Grarup N, Andreasen CH, Andersen MK, Albrechtsen A, Sandbaek A, Lauritzen T, Borch-Johnsen K, Jørgensen T, Schmitz O, Hansen T, Pedersen O. The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects. The Journal of clinical endocrinology and metabolism, 2008, vol. 93, no. 6, pp. 2294-2299

15. Andreasen CH, Stender-Petersen KL, Mogensen MS, Torekov SS, Wegner L, Andersen G, Nielsen AL, Albrechtsen A, Borch-Johnsen K, Rasmussen SS, Clausen JO, Sandbaek A, Lauritzen T, Hansen L, Jørgensen T, Pedersen O, Hansen T. Low physical activity accentuates the effect of the FTO rs9939609 polymorphism on body fat accumulation. Diabetes, 2008, vol. 57, no. 1, pp. 95-101

14. Sparsø T, Andersen G, Nielsen T, Burgdorf KS, Gjesing AP, Nielsen AL, Albrechtsen A, Rasmussen SS, Jørgensen T, Borch-Johnsen K, Sandbaek A, Lauritzen T, Madsbad S, Hansen T, Pedersen O. The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes. Diabetologia, 2008, vol. 51, no. 1, pp. 70-75

13. Hansen TV, Bisgaard ML, Jønson L, Albrechtsen A, Filtenborg-Barnkob B, Eiberg H, Ejlertsen B, Nielsen FC. Novel de novo BRCA2 mutation in a patient with a family history of breast cancer. BMC medical genetics, 2008, vol. 9, pp. 58

2007

12. Grarup N, Rose CS, Andersson EA, Andersen G, Nielsen AL, Albrechtsen A, Clausen JO, Rasmussen SS, Jørgensen T, Sandbaek A, Lauritzen T, Schmitz O, Hansen T, Pedersen O. Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies. Diabetes, 2007, vol. 56, no. 12, pp. 3105-3111

11. Boesgaard TW, Castella SI, Andersen G, Albrechtsen A, Sparsø T, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. A -243A—>G polymorphism upstream of the gene encoding GAD65 associates with lower levels of body mass index and glycaemia in a population-based sample of 5857 middle-aged White subjects. Diabetic medicine a journal of the British Diabetic Association, 2007, vol. 24, no. 7, pp. 702-706

10. Albrechtsen A, Castella S, Andersen G, Hansen T, Pedersen O, Nielsen R. A Bayesian multilocus association method: allowing for higher-order interaction in association studies. Genetics, 2007, vol. 176, no. 2, pp. 1197-1208

9. Grarup N, Albrechtsen A, Ek J, Borch-Johnsen K, Jørgensen T, Schmitz O, Hansen T, Pedersen O. Variation in the peroxisome proliferator-activated receptor delta gene in relation to common metabolic traits in 7,495 middle-aged white people. Diabetologia, 2007, vol. 50, no. 6, pp. 1201-1208

8. Gjesing AP, Andersen G, Albrechtsen A, Glümer C, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. Studies of associations between the Arg389Gly polymorphism of the beta1-adrenergic receptor gene (ADRB1) and hypertension and obesity in 7677 Danish white subjects. Diabetic medicine a journal of the British Diabetic Association, 2007, vol. 24, no. 4, pp. 392-397

7. Larsen LH, Rose CS, Sparsø T, Overgaard J, Torekov SS, Grarup N, Jensen DP, Albrechtsen A, Andersen G, Ek J, Glümer C, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. Genetic analysis of the estrogen-related receptor alpha and studies of association with obesity and type 2 diabetes. International journal of obesity, 2007, vol. 31, no. 2, pp. 365-370

6. Grarup N, Andersen MK, Andreasen CH, Albrechtsen A, Borch-Johnsen K, Jørgensen T, Auwerx J, Schmitz O, Hansen T, Pedersen O. Studies of the common DIO2 Thr92Ala polymorphism and metabolic phenotypes in 7342 Danish white subjects. The Journal of clinical endocrinology and metabolism, 2007, vol. 92, no. 1, pp. 363-366

2006

5. Torekov SS, Larsen LH, Andersen G, Albrechtsen A, Glümer C, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. Variants in the 5' region of the neuropeptide Y receptor Y2 gene (NPY2R) are associated with obesity in 5,971 white subjects. Diabetologia, 2006, vol. 49, no. 11, pp. 2653-2658

4. Wegner L, Andersen G, Albrechtsen A, Sparsø T, Glümer C, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes. Diabetic medicine a journal of the British Diabetic Association, 2006, vol. 23, no. 10, pp. 1140-1144

3. Grarup N, Urhammer SA, Ek J, Albrechtsen A, Glümer C, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. Studies of the relationship between the ENPP1 K121Q polymorphism and type 2 diabetes, insulin resistance and obesity in 7,333 Danish white subjects. Diabetologia, 2006, vol. 49, no. 9, pp. 2097-2104

2. Ek J, Hansen SP, Lajer M, Nicot C, Boesgaard TW, Pruhova S, Johansen A, Albrechtsen A, Yderstraede K, Lauenborg J, Parrizas M, Boj SF, Jørgensen T, Borch-Johnsen K, Damm P, Ferrer J, Lebl J, Pedersen O, Hansen T. A novel -192c/g mutation in the proximal P2 promoter of the hepatocyte nuclear factor-4 alpha gene (HNF4A) associates with late-onset diabetes. Diabetes, 2006, vol. 55, no. 6, pp. 1869-1873

1. Andersen G, Overgaard J, Albrechtsen A, Glümer C, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O. Studies of the association of the GNB3 825C>T polymorphism with components of the metabolic syndrome in white Danes. Diabetologia, 2006, vol. 49, no. 1, pp. 75-82