Zobrazeno 1 - 10
of 143
pro vyhledávání: '"van Oven, M"'
Autor:
Frigi, S., Mota-Vieira, L., Cherni, L., van Oven, M., Pires, R., Boussetta, S., El-Gaaied, A. Ben Ammar
Publikováno v:
In HOMO - Journal of Comparative Human Biology August 2017 68(4):298-315
Autor:
Larmuseau, M.H.D., Vanderheyden, N., Van Geystelen, A., van Oven, M., Kayser, M., Decorte, R.
Publikováno v:
In Forensic Science International: Genetics March 2014 9:179-185
Autor:
Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, Santen, GWE, Lopes, SMCDS, Heijmans, BT, Van Meurs, J, Jansen, R, Franke, L, Kielbasa, SM, Den Dunnen, JT, 't Hoen, PAC, Boomsma, DI, Pool, R, Van Dongen, J, Hottenga, JJ, Van Greevenbroek, MMJ, Da Stehouwer, C, Van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, S, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, Van Heemst, D, Veldink, JH, Van den Berg, LH, Van Duijn, CM, Hofman, BA, Uitterlinden, AG, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, Van der Breggen, R, Van Rooij, J, Lakenberg, N, Mei, H, Bot, J, Zhernakova, DV, 't Hof, PV, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Luijk, R, Bonder, MJ, Van Iterson, M, Van Dijk, F, Van Galen, M, Arindrarto, W, Swertz, MA, Van Zwet, EW, Isaacs, A, Francioli, LC, Menelaou, A, Pulit, SL, Palamara, PF, Elbers, CC, Neerincx, PB, Ye, K, Guryev, V, Kloosterman, WP, Abdellaoui, A, Van Leeuwen, EM, Van Oven, M, Li, M, Laros, JF, Karssen, LC, Kanterakis, A, Amin, N, Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Setten, J, Van Schaik, BD, Nijman, IJ, Renkens, I, Marschall, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, Van Enckevort, D, Koval, V, Moed, MH, Van der Velde, KJ, Rivadeneira, F, Estrada, K, Medina-Gomez, C, McCarroll, SA, De Craen, AJ, Suchiman, HE, Oostra, B, Willemsen, G, Platteel, M, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Stoneking, M, De Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, JA, Pe'er, I, Van Ommen, GJ, De Bakker, PI
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 27(3), 455-465. Nature Publishing Group
European journal of human genetics, 27(3), 455-465. Nature Publishing Group
European Journal of Human Genetics, 27(3), 455-465
European Journal of Human Genetics, 27, 455-465
European Journal of Human Genetics, 27(3), 455. Nature Publishing Group
European Journal of Human Genetics, 27, 3, pp. 455-465
Shvetsova, E, 't Hoen, P A C, Boomsma, D I, Pool, R, van Dongen, J, Hottenga, J J, Willemsen, G & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, H H M, White, S J, Santen, G W E, Chuva de Sousa Lopes, S M, Heijmans, B T, van Meurs, J, Jansen, R, Franke, L, Kiełbasa, S M, den Dunnen, J T, ‘t Hoen, P A C & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
European Journal of Human Genetics, 27(3), 455-465. Nature Publishing Group
European journal of human genetics, 27(3), 455-465. Nature Publishing Group
European Journal of Human Genetics, 27(3), 455-465
European Journal of Human Genetics, 27, 455-465
European Journal of Human Genetics, 27(3), 455. Nature Publishing Group
European Journal of Human Genetics, 27, 3, pp. 455-465
Shvetsova, E, 't Hoen, P A C, Boomsma, D I, Pool, R, van Dongen, J, Hottenga, J J, Willemsen, G & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, H H M, White, S J, Santen, G W E, Chuva de Sousa Lopes, S M, Heijmans, B T, van Meurs, J, Jansen, R, Franke, L, Kiełbasa, S M, den Dunnen, J T, ‘t Hoen, P A C & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
X-inactivation is a well-established dosage compensation mechanism ensuring that X-chromosomal genes are expressed at comparable levels in males and females. Skewed X-inactivation is often explained by negative selection of one of the alleles. We dem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d16e7db74a66781c04e9903128640a4
https://doi.org/10.1038/s41431-018-0291-3
https://doi.org/10.1038/s41431-018-0291-3
Autor:
Nersisyan, Lilit, Nikoghosyan, Maria, Arakelyan, Arsen, Francioli, Laurent, Menelaou, A. (Androniki), Pulit, S.L. (Sara L.), Elbers, C.C. (Clara C.), Kloosterman, Wigard, van Setten, J. (Jessica), Nijman, Isaac, Renkens, Ivo, de Bakker, P.I.W. (Paul I. W.), Dijk, Freerk, Neerincx, Pieter, Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, H. (Heorhiy), van der Velde, K.J. (K. Joeri), Platteel, Mathieu, Swertz, M.A. (Morris A.), Wijmenga, Cisca, Palamara, P.F. (Pier Francesco), Pe’er, I. (Itsik), Ye, K. (Kai), Lameijer, Eric-Wubbo, Moed, M.H. (Matthijs H.), Beekman, M. (Marian), Craen, Anton, Suchiman, H.E.D. (H. Eka D.), Slagboom, Eline, Guryev, Victor, Abdellaoui, Abdel, Jan Hottenga, J. (Jouke), Kattenberg, M. (Mathijs), Willemsen, Gonneke, Boomsma, Dorret, van Leeuwen, E.M. (Elisabeth M.), Karssen, Lennart, Amin, N. (Najaf), Rivadeneira, F. (Fernando), Isaacs, A. (Aaron), Hofman, A. (Albert), Uitterlinden, André, Duijn, Cornelia, van Oven, M. (Mannis), Kayser, M. (Manfred), Vermaat, Martijn, Laros, Jeroen, Dunnen, Johan, Enckevort, David, Mei, Hailiang, Li, M. (Mingkun), Stoneking, M. (Mark), Schaik, Barbera, Bot, Jan, Marschall, Tobias, Schönhuth, Alexander, Hehir-Kwa, Jayne, Handsaker, Robert, Polak, P. (Paz), Sohail, M. (Mashaal), Vuzman, D. (Dana), Estrada, Karol, McCarroll, S.A. (Steven A.), Sunyaev, S.R. (Shamil R.), Hormozdiari, Fereydoun, Koval, Vyacheslav, Medina-Gomez, C. (Carolina), Oostra, B. (Ben), Veldink, Jan, van den Berg, L.H. (Leonard H.), Pitts, S.J. (Steven J.), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D.R. (David R.), Knijff, Peter, Li, Q. (Qibin), Li, Y. (Yingrui), Du, Yuanping, Chen, Ruoyan, Cao, H. (Hongzhi), Wang, J. (Jun), Li, N. (Ning), Cao, S. (Sujie), Bovenberg, Jasper, Ommen, Gert-Jan, The Genome of the Netherlands Consortium
Publikováno v:
Nersisyan, L, Nikoghosyan, M, Francioli, L C, Menelaou, A, Pulit, S L, Elbers, C C, Kloosterman, W P, van Setten, J, Nijman, I J, Renkens, I, de Bakker, P I W, van Dijk, F, Neerincx, P B T, Deelen, P, Kanterakis, A, Dijkstra, M, Byelas, H, van der Velde, K J, Platteel, M, Swertz, M A, Wijmenga, C, Palamara, P F, Pe'er, I, Ye, K, Lameijer, E-W, Moed, M H, Beekman, M, de Craen, A J M, Suchiman, H E D, Slagboom, P E, Guryev, V, Abdellaoui, A, Hottenga, J J, Kattenberg, M, Willemsen, G, Boomsma, D I, van Leeuwen, E M, Karssen, L C, Amin, N, Rivadeneira, F, Isaacs, A, Hofman, A, Uitterlinden, A G, van Duijn, C M, van Oven, M, Kayser, M, Vermaat, M, Laros, J F J, den Dunnen, J T, van Enckevort, D, Mei, H, Li, M, Stoneking, M, van Schaik, B D C, Bot, J, Marschall, T, Schonhuth, A, Hehir-Kwa, J Y, Handsaker, R E, Polak, P, Sohail, M, Vuzman, D, Estrada, K, McCarroll, S A, Sunyaev, S R, Hormozdiari, F, Koval, V, Medina-Gomez, C, Oostra, B, Veldink, J H, van den Berg, L H, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, de Knijff, P, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Wang, J, Li, N, Cao, S, Bovenberg, J A, van Ommen, G-J B & Arakelyan, A 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, 18758 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports, 9(1):18758, 1-9. Nature Publishing Group
Scientific Reports, 9(1):18758. Nature Publishing Group
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, 9. NATURE PUBLISHING GROUP
Nature Scientific Reports, 9(1)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, 9:18758. Nature Publishing Group
Scientific reports, 9(1):18758. Nature Publishing Group
Scientific reports, vol 9, iss 1
Nersisyan, L, Arakelyan, A, Abdellaoui, A, Jan Hottenga, J, Kattenberg, M, Willemsen, G, Boomsma, D I & The Genome of the Netherlands consortium 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, no. 1, 18758, pp. 1-9 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports
Scientific Reports, 9(1):18758, 1-9. Nature Publishing Group
Scientific Reports, 9(1):18758. Nature Publishing Group
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, 9. NATURE PUBLISHING GROUP
Nature Scientific Reports, 9(1)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, 9:18758. Nature Publishing Group
Scientific reports, 9(1):18758. Nature Publishing Group
Scientific reports, vol 9, iss 1
Nersisyan, L, Arakelyan, A, Abdellaoui, A, Jan Hottenga, J, Kattenberg, M, Willemsen, G, Boomsma, D I & The Genome of the Netherlands consortium 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, no. 1, 18758, pp. 1-9 . https://doi.org/10.1038/s41598-019-55109-7
Scientific Reports
Telomere length (TL) regulation is an important factor in ageing, reproduction and cancer development. Genetic, hereditary and environmental factors regulating TL are currently widely investigated, however, their relative contribution to TL variabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbec0f3bca0eb566284734623f469e3
https://curis.ku.dk/ws/files/237702127/WGS_based_telomere_length_analysis_in_Dutch_family_trios_implicates_stronger_maternal_inheritance_and_a_role_for_RRM1_gene.pdf
https://curis.ku.dk/ws/files/237702127/WGS_based_telomere_length_analysis_in_Dutch_family_trios_implicates_stronger_maternal_inheritance_and_a_role_for_RRM1_gene.pdf
Autor:
Nagle, N, Van Oven, M, Wilcox, S, Van Holst Pellekaan, S, Tyler-Smith, C, Xue, Y, Ballantyne, KN, Wilcox, L, Papac, L, Cooke, K, Van Oorschot, RAH, McAllister, P, Williams, L, Kayser, M, Mitchell, RJ, Adhikarla, S, Adler, CJ, Balanovska, E, Balanovsky, O, Bertranpetit, J, Clarke, AC, Comas, D, Cooper, A, Der Sarkissian, CSI, Dulik, MC, Gaieski, JB, Kumar, A, Prasad, G, Haak, W, Haber, M, Hobbs, A, Javed, A, Jin, L, Kaplan, ME, Li, S, Martinez-Cruz, B, Matisoo-Smith, EA, Mele, M, Merchant, NC, Owings, AC, Parida, L, Pitchappan, R, Platt, DE, Quintana-Murci, L, Renfrew, C, Royyuru, AK, Santhakumari, AV, Santos, FR, Schurr, TG, Soodyall, H, Soria Hernanz, DF, Swamikrishnan, P, Vilar, MG, Wells, RS, Zalloua, PA, Ziegle, JS, Martinez Cruz, B
Publikováno v:
Recercat. Dipósit de la Recerca de Catalunya
instname
Scientific Reports, 7:43041. Nature Publishing Group
Scientific Reports
Scientific Reports, Nature Publishing Group, 2017, 7, pp.43041. ⟨10.1038/srep43041⟩
instname
Scientific Reports, 7:43041. Nature Publishing Group
Scientific Reports
Scientific Reports, Nature Publishing Group, 2017, 7, pp.43041. ⟨10.1038/srep43041⟩
Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 thousand years ago. Genetic studi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d41e1ac03be7e7d38a7adca461de3f9b
Human mitochondrial DNA haplogroup U is among the initial maternal founders in Southwest Asia and Europe and one that best indicates matrilineal genetic continuity between late Pleistocene hunter-gatherer groups and present-day populations of Europe.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::c1fdb8c10205e26b0d2c054eb1746890
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056700
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056700
Autor:
Sahakyan, H, Kashani, BH, Tamang, R, Kushniarevich, A, Francis, A, Costa, MD, Pathak, AK, Khachatryan, Z, Sharma, I, van Oven, M, Parik, J, Hovhannisyan, H, Metspalu, E, Pennarun, E, Karmin, M, Tamm, E, Tambets, K, Bahmanimehr, A, Reisberg, T, Reidla, M, Achilli, A, Olivieri, A, Gandini, F, Perego, UA, Al-Zahery, N, Houshmand, M, Sanati, MH, Soares, P, Rai, E, Šarac, J, Šarić, T, Sharma, V, Pereira, L, Fernandes, V, Černý, V, Farjadian, S, Singh, DP, Azakli, H, Üstek, D, Ekomasova, NT, Kutuev, I, Litvinov, S, Bermisheva, M, Khusnutdinova, EK, Rai, N, Singh, M, Singh, VK, Reddy, AG, Tolk, HV, Cvjetan, S, Lauc, LB, Rudan, P, Michalodimitrakis, EN, Anagnou, NP, Pappa, KI, Golubenko, MV, Orekhov, V, Borinskaya, SA, Kaldma, K, Schauer, MA, Simionescu, M, Gusar, V, Grechanina, E, Govindaraj, P, Voevoda, M, Damba, L, Sharma, S, Singh, L, Semino, O, Behar, DM, Yepiskoposyan, L, Richards, MB, Metspalu, M, Kivisild, T, Thangaraj, K, Endicott, P, Chaubey, G, Torroni, A, Villems, R
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human mitochondrial DNA haplogroup U is among the initial maternal founders in Southwest Asia and Europe and one that best indicates matrilineal genetic continuity between late Pleistocene huntergatherer groups and present-day populations of Europe.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::295d1d60df4f28f9a1f525eaf5788b88
https://hdl.handle.net/10216/109249
https://hdl.handle.net/10216/109249
Autor:
Prins, J. R.1,2 j.r.prins@umcg.nl, Van Oven, M. W.3 ovenm@mzh.nl, Helder-Woolderink, J. M.1 j.helder-woolderink@mzh.nl
Publikováno v:
Case Reports in Obstetrics & Gynecology. 9/29/2015, Vol. 2015, p1-3. 3p.
Autor:
Francioli, L.C., Polak, P.P., Koren, A., Menelaou, A., Chun, S., Renkens, I., van Duijn, C.M., Swertz, M.A., Wijmenga, C., van Ommen, G.J., Slagboom, P.E., Boomsma, D.I., Ye, K., Guryev, V., Arndt, P.F., Kloosterman, W.P., Bakker, P.I.W., Sunyaev, S.R., Dijk, F., Neerincx, P.B.T., Pulit, S.L., Deelen, P., Elbers, C.C., Palamara, P.F., Pe'er, I., Abdellaoui, A., van Oven, M., Vermaat, M., Li, M., Laros, J.F.J., Stoneking, M., de Knijff, P., Kayser, M., Veldink, J.H., Van den Berg, L.H., Byelas, H., den Dunnen, J.T., Dijkstra, M., Amin, N., van der Velde, K.J., Hottenga, J.J., van Setten, J., van Leeuwen, E.M., Kanterakis, A., Kattenberg, V.M., Karssen, L.C., van Schaik, B.D.C., Bot, J., Nijman, I.J., van Enckevort, D., Mei, H., Koval, V., Estrada, K., Medina-Gomez, C., Lameijer, E.W., Moed, M.H., Hehir-Kwa, J.Y., Handsaker, R.E., McCarroll, S.A., Vuzman, D., Sohail, M., Hormozdiari, F., Marschall, T., Schönhuth, A., Beekman, M., de Craen, A.J., Suchiman, H.E.D., Hofman, A., Oostra, B., Isaacs, A., Rivadeneira, F., Uitterlinden, A.G., Willemsen, G., Platteel, M., Pitts, S.J., Potluri, S., Sundar, P., Cox, D.R., Li, Q., Li, Y., Du, Y., Chen, R., Cao, H., Li, N., Cao, S., Wang, J., Bovenberg, J.A., Brandsma, M.
Publikováno v:
Nature Genetics, 47(7), 822-826.e3. Nature Publishing Group
Nature Genetics
Nature Genetics, 47(7), 822-826. Nature Publishing Group
Nature genetics
Nature Genetics, 47(7), 822-+. Nature Publishing Group
Nature Genetics, 47(7), 822
Francioli, L C, Polak, P P, Koren, A, Menelaou, A, Chun, S, Renkens, I, van Duijn, C M, Swertz, M A, Wijmenga, C, van Ommen, G J, Slagboom, P E, Boomsma, D I, Ye, K, Guryev, V, Arndt, P F, Kloosterman, W P, Bakker, P I W, Sunyaev, S R, Dijk, F, Neerincx, P B T, Pulit, S L, Deelen, P, Elbers, C C, Palamara, P F, Pe'er, I, Abdellaoui, A, van Oven, M, Vermaat, M, Li, M, Laros, J F J, Stoneking, M, de Knijff, P, Kayser, M, Veldink, J H, Van den Berg, L H, Byelas, H, den Dunnen, J T, Dijkstra, M, Amin, N, van der Velde, K J, Hottenga, J J, van Setten, J, van Leeuwen, E M, Kanterakis, A, Kattenberg, V M, Karssen, L C, van Schaik, B D C, Bot, J, Nijman, I J, van Enckevort, D, Mei, H, Koval, V, Estrada, K, Medina-Gomez, C, Lameijer, E W, Moed, M H, Hehir-Kwa, J Y, Handsaker, R E, McCarroll, S A, Vuzman, D, Sohail, M, Hormozdiari, F, Marschall, T, Schönhuth, A, Beekman, M, de Craen, A J, Suchiman, H E D, Hofman, A, Oostra, B, Isaacs, A, Rivadeneira, F, Uitterlinden, A G, Willemsen, G, Platteel, M, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, J A & Brandsma, M 2015, ' Genome-wide patterns and properties of de novo mutations in humans ', Nature Genetics, vol. 47, no. 7, pp. 822-826 . https://doi.org/10.1038/ng.3292
Nature Genetics
Nature Genetics, 47(7), 822-826. Nature Publishing Group
Nature genetics
Nature Genetics, 47(7), 822-+. Nature Publishing Group
Nature Genetics, 47(7), 822
Francioli, L C, Polak, P P, Koren, A, Menelaou, A, Chun, S, Renkens, I, van Duijn, C M, Swertz, M A, Wijmenga, C, van Ommen, G J, Slagboom, P E, Boomsma, D I, Ye, K, Guryev, V, Arndt, P F, Kloosterman, W P, Bakker, P I W, Sunyaev, S R, Dijk, F, Neerincx, P B T, Pulit, S L, Deelen, P, Elbers, C C, Palamara, P F, Pe'er, I, Abdellaoui, A, van Oven, M, Vermaat, M, Li, M, Laros, J F J, Stoneking, M, de Knijff, P, Kayser, M, Veldink, J H, Van den Berg, L H, Byelas, H, den Dunnen, J T, Dijkstra, M, Amin, N, van der Velde, K J, Hottenga, J J, van Setten, J, van Leeuwen, E M, Kanterakis, A, Kattenberg, V M, Karssen, L C, van Schaik, B D C, Bot, J, Nijman, I J, van Enckevort, D, Mei, H, Koval, V, Estrada, K, Medina-Gomez, C, Lameijer, E W, Moed, M H, Hehir-Kwa, J Y, Handsaker, R E, McCarroll, S A, Vuzman, D, Sohail, M, Hormozdiari, F, Marschall, T, Schönhuth, A, Beekman, M, de Craen, A J, Suchiman, H E D, Hofman, A, Oostra, B, Isaacs, A, Rivadeneira, F, Uitterlinden, A G, Willemsen, G, Platteel, M, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, J A & Brandsma, M 2015, ' Genome-wide patterns and properties of de novo mutations in humans ', Nature Genetics, vol. 47, no. 7, pp. 822-826 . https://doi.org/10.1038/ng.3292
Mutations create variation in the population, fuel evolution and cause genetic diseases. Current knowledge about de novo mutations is incomplete and mostly indirect(1-10). Here we analyze 11,020 de novo mutations from the whole genomes of 250 familie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcffa53d5a79b0ce9e9a5a500dbe44cb
https://research.rug.nl/en/publications/eb8bb667-af9e-4a22-b523-97671a070699
https://research.rug.nl/en/publications/eb8bb667-af9e-4a22-b523-97671a070699
Autor:
Van Leeuwen, EM, Karssen, LC, Deelen, J, Isaacs, A, Medina-Gomez, C, Mbarek, H, Kanterakis, A, Trompet, S, Postmus, I, Verweij, N, Van Enckevort, DJ, Huffman, JE, White, CC, Feitosa, MF, Bartz, TM, Manichaikul, A, Joshi, PK, Peloso, GM, Deelen, P, Van Dijk, F, Willemsen, G, De Geus, EJ, Milaneschi, Y, Penninx, BWJH, Francioli, LC, Menelaou, A, Pulit, SL, Rivadeneira, F, Hofman, A, Oostra, BA, Franco, OH, Leach, IM, Beekman, M, De Craen, AJM, Uh, HW, Trochet, H, Hocking, LJ, Porteous, DJ, Sattar, N, Packard, CJ, Buckley, BM, Brody, JA, Bis, JC, Rotter, JI, Mychaleckyj, JC, Campbell, H, Duan, Q, Lange, LA, Wilson, JF, Hayward, C, Polasek, O, Vitart, V, Rudan, I, Wright, AF, Rich, SS, Psaty, BM, Borecki, IB, Kearney, PM, Stott, DJ, Cupples, LA, Jukema, JW, Van Der Harst, P, Sijbrands, EJ, Hottenga, JJ, Uitterlinden, AG, Swertz, MA, Van Ommen, GJB, De Bakker, PIW, Eline Slagboom, P, Boomsma, DI, Wijmenga, C, Van Duijn, CM, Neerincx, PBT, Elbers, CC, Palamara, PF, Peer, I, Abdellaoui, A, Kloosterman, WP, Van Oven, M, Vermaat, M, Li, M, Laros, JFJ, Stoneking, M, De Knijff, P, Kayser, M, Veldink, JH, Van Den Berg, LH, Byelas, H, Den Dunnen, JT, Dijkstra, M, Amin, N, Van Der Velde, KJ, Van Setten, J
Publikováno v:
Van Leeuwen, EM; Karssen, LC; Deelen, J; Isaacs, A; Medina-Gomez, C; Mbarek, H; et al.(2015). Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. Nature Communications, 6. doi: 10.1038/ncomms7065. UCLA: Retrieved from: http://www.escholarship.org/uc/item/0pf7030w
© 2015 Macmillan Publishers Limited. All rights reserved. Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::40fe9f479300706910e75022cbf7bdca
http://www.escholarship.org/uc/item/0pf7030w
http://www.escholarship.org/uc/item/0pf7030w