المؤلفون: 1000 Genomes Project, Auton, A., Abecasis, G.R., Altshuler, D.M., Durbin, R.M., Bentley, D.R., Chakravarti, A., Clark, A.G., Donnelly, P., Eichler, E.E., Flicek, P., Gabriel, S.B., Gibbs, R.A., Green, E.D., Hurles, M.E., Knoppers, B.M., Korbel, J.O., Lander, E.S., Lee, C., Lehrach, H., Mardis, E.R., Marth, G.T., McVean, G.A., Nickerson, D.A., Schmidt, J.P., Sherry, S.T., Wang, J., Wilson, R.K., Boerwinkle, E., Doddapaneni, H., Han, Y., Korchina, V., Kovar, C., Lee, S., Muzny, D., Reid, J.G., Zhu, Y., Chang, Y., Feng, Q., Fang, X., Guo, X., Jian, M., Jiang, H., Jin, X., Lan, T., Li, G., Li, J., Li, Y., Liu, S., Liu, X.

مصطلحات موضوعية: Humans, Genetic Variation, Genetics, Population, Genotype, public health, Genome-Wide Association Study, Demography, human, priority journal, Quantitative Trait Loci, major clinical study, ancestry, polymorphism, human genome, population structure, quantitative trait locus, Internationality, Datasets as Topic, Sequence Analysis, DNA, Reference Standards, Single Nucleotide, Genomics, Haplotypes, High-Throughput Nucleotide Sequencing, Rare Diseases, international cooperation, Review, DNA sequence

Relation: urn:issn:1476-4687; https://hdl.handle.net/20.500.12866/5743; https://doi.org/10.1038/nature15393

الاتاحة: https://hdl.handle.net/20.500.12866/5743
https://doi.org/10.1038/nature15393

المؤلفون: Colonna, V., Ayub, Q., Chen, Y, Pagani, L., Luisi, P., Pybus, M., Garrison, E., Xue, Y., Tyler-Smith, C., Abecasis, G.R., Auton, A., Brooks, L.D., DePristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T., McVean, G.A.

المصدر: Genome Biology, 15, 6, pp. R88

مصطلحات موضوعية: Molecular Biology

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/276193/276193.pdf; https://repository.ubn.ru.nl/handle/2066/276193

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/276193/276193.pdf
https://repository.ubn.ru.nl/handle/2066/276193

المؤلفون: Altshuler DM, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Donnelly P, Eichler EE, Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, Korbel JO, Lander ES, Lee C, Lehrach H, Mardis ER, Marth GT, McVean GA, Nickerson DA, Schmidt JP, Sherry ST, Wang J, Wilson RK, Dinh H, Kovar C, Lee S, Lewis L, Muzny D, Reid J, Wang M, Fang X, Guo X, Jian M, Jiang H, Jin X, Li G, Li J, Li Y, Li Z, Liu X, Lu Y, Ma X, Su Z, Tai S, Tang M, Wang B, Wang G, Wu H, Wu R, Yin Y, Zhang W, Zhao J, Zhao M, Zheng X, Zhou Y, Gupta N, Clarke L, Leinonen R, Smith RE, Zheng Bradley X, Grocock R, Humphray S, James T, Kingsbury Z, Sudbrak R, Albrecht MW, Amstislavskiy VS, Borodina TA, Lienhard M, Mertes F, Sultan M, Timmermann B, Yaspo ML, Fulton L, Fulton R, Weinstock GM, Balasubramaniam S, Burton J, Danecek P, Keane TM, Kolb Kokocinski A, McCarthy S, Stalker J, Quail M, Davies CJ, Gollub J, Webster T, Wong B, Zhan Y, Auton A, Yu F, Bainbridge M, Challis D, Evani US, Lu J, Nagaswamy U, Sabo A, Wang Y, Yu J, Coin LJ, Fang L, Li Q, Lin H, Liu B, Luo R, Qin N, Shao H, Xie Y, Ye C, Yu C, Zhang F, Zheng H, Zhu H, Garrison EP, Kural D, Lee WP, Leong WF, Ward AN, Wu J, Zhang M, Griffin L, Hsieh CH, Mills RE, Shi X, von Grotthuss M, Zhang C, Daly MJ, DePristo MA, Banks E, Bhatia G, Carneiro MO, del Angel G, Genovese G, Handsaker RE, Hartl C, McCarroll SA, Nemesh JC, Poplin RE, Schaffner SF, Shakir K, Yoon SC, Lihm J, Makarov V, Jin H, Kim W, Kim KC, Rausch T, Beal K, Cunningham F, Herrero J, McLaren WM, Ritchie GR, Gottipati S, Keinan A, Rodriguez Flores JL, Sabeti PC, Grossman SR, Tabrizi S, Tariyal R, Cooper DN, Ball EV, Stenson PD, Barnes B, Bauer M, Cheetham R, Cox T, Eberle M, Kahn S, Murray L, Peden J, Shaw R, Ye K, Batzer MA, Konkel MK, Walker JA, MacArthur DG, Lek M, Herwig R, Shriver MD, Bustamante CD, Byrnes JK, De La Vega M, Gravel S, Kenny EE, Kidd JM, Lacroute P, Maples BK, Moreno Estrada A, Zakharia F, Halperin E, Baran Y, Craig DW, Christoforides A, Homer N, Izatt T, Kurdoglu AA, Sinari SA, Squire K, Xiao C, Sebat J, Bafna V, Burchard EG, Hernandez RD, Gignoux CR, Haussler D, Katzman SJ, Kent W, Howie B, Ruiz Linares A, Dermitzakis ET, Lappalainen T, Devine SE, Maroo A, Tallon LJ, Rosenfeld JA, Michelson LP, Kang HM, Anderson P, Angius A, Bigham A, Blackwell T, Busonero F, Fuchsberger C, Jones C, Jun G, Lyons R, Maschio A, Porcu E, Reinier F, Sanna S, Schlessinger D, Sidore C, Tan A, Trost MK, Awadalla P, Hodgkinson A, Lunter G, Marchini JL, Myers S, Churchhouse C, Delaneau O, Gupta Hinch A, Iqbal Z, Mathieson I, Rimmer A, Xifara DK, Oleksyk TK, Fu Y, Xiong M, Jorde L, Witherspoon D, Xing J, Browning BL, Alkan C, Hajirasouliha I, Hormozdiari F, Ko A, Sudmant PH, Chen K, Chinwalla A, Ding L, Dooling D, Koboldt DC, McLellan MD, Wallis JW, Wendl MC, Zhang Q, Tyler Smith C, Albers CA, Ayub Q, Chen Y, Coffey AJ, Colonna V, Huang N, Jostins L, Li H, Scally A, Walter K, Xue Y, Zhang Y, Gerstein MB, Abyzov A, Balasubramanian S, Chen J, Clarke D, Habegger L, Harmanci AO, Jin M, Khurana E, Mu XJ, Sisu C, Degenhardt J, Stütz AM, Church D, Michaelson JJ, Blackburne B, Lindsay SJ, Ning Z, De La Vega FM, Frankish A, Harrow J, Kalra D, Hale W, Fowler G, Barker J, Kelman G, Kulesha E, Radhakrishnan R, Roa A, Smirnov D, Streeter I, Toneva I, Vaughan B, Ananiev V, Belaia Z, Beloslyudtsev D, Bouk N, Chen C, Cohen R, Cook C, Garner J, Hefferon T, Kimelman M, Liu C, Lopez J, Meric P, O'Sullivan C, Ostapchuk Y, Phan L, Ponomarov S, Schneider V, Shekhtman E, Sirotkin K, Slotta D, Zhang H, Barnes KC, Beiswanger C, Burchard E, Cai H, Cao H, Gharani N, Henn B, Jones D, Kaye JS, Kent A, Kerasidou A, Mathias R, McVean G, Ossorio PN, Parker M, Reich D, Rotimi CN, Royal CD, Sandoval K, Su Y, Tian Z, Tishkoff S, Toji LH, Via M, Yang H, Yang L, Zhu J, Bodmer W, Bedoya G, Ming CZ, Yang G, You CJ, Peltonen L, Garcia Montero A, Orfao A, Dutil J, Martinez Cruzado JC, Brooks LD, Felsenfeld AL, McEwen JE, Clemm NC, Duncanson A, Dunn M, Guyer MS, Peterson JL, McVean G.A., CUCCA, Francesco

المساهمون: Altshuler, Dm, Durbin, Rm, Abecasis, Gr, Bentley, Dr, Chakravarti, A, Clark, Ag, Donnelly, P, Eichler, Ee, Flicek, P, Gabriel, Sb, Gibbs, Ra, Green, Ed, Hurles, Me, Knoppers, Bm, Korbel, Jo, Lander, E, Lee, C, Lehrach, H, Mardis, Er, Marth, Gt, Mcvean, Ga, Nickerson, Da, Schmidt, Jp, Sherry, St, Wang, J, Wilson, Rk, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, Re, Zheng Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, Mw, Amstislavskiy, V, Borodina, Ta, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, Ml, Fulton, L, Fulton, R, Weinstock, Gm, Balasubramaniam, S, Burton, J, Danecek, P, Keane, Tm, Kolb Kokocinski, A, Mccarthy, S, Stalker, J, Quail, M

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000325126100049; volume:342; issue:6154; firstpage:84; journal:SCIENCE; http://hdl.handle.net/11388/78187; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84885639776

الاتاحة: http://hdl.handle.net/11388/78187
https://doi.org/10.1126/science.1235587

المؤلفون: Altshuler, D.M., Durbin, R.M., Abecasis G.R., Bentley, D.R., Chakravarti, A., Clark, A.G., Donnelly P., Eichler, E.E., Flicek P., Gabriel, S.B., Gibbs, R.A., Green, E.D., Hurles, M.E., Knoppers, B.M., Korbel J.O., Lander, E.S., Lee, C., Lehrach H., Mardis, E.R., Marth G.T., McVean G.A., Nickerson, D.A., Schmidt J.P., Sherry, S.T., Wang J., Wilson, R.K., Dinh H., Kovar, C., Lee, S., Lewis L., Muzny, D., Reid J., Wang, M., Fang X., Guo X., Jian, M., Jiang H., Jin X., Li G., Li J., Li, Y., Li, Z., Liu X., Lu, Y., Ma X., Su, Z., Tai, S., Tang, M., Wang, B., Wang G., Wu H., Wu, R., Yin, Y., Zhang W., Zhao J., Zhao, M., Zheng X., Zhou, Y., Gupta, N., Clarke L., Leinonen, R., Smith, R.E., Zheng-Bradley X., Grocock, R., Humphray, S., James, T., Kingsbury, Z., Sudbrak, R., Albrecht, M.W., Amstislavskiy V.S., Borodina, T.A., Lienhard, M., Mertes F., Sultan, M., Timmermann, B., Yaspo, M.-L., Fulton L., Fulton, R., Weinstock G.M., Balasubramaniam, S., Burton J., Danecek P., Keane, T.M., Kolb-Kokocinski, A., McCarthy, S., Stalker J., Quail, M., Davies, C.J., Gollub J., Webster, T., Wong, B., Zhan, Y., Auton, A., Yu F., Bainbridge, M., Challis, D., Evani, U.S., Lu J., Nagaswamy, U., Sabo, A., Wang, Y., Yu J., Coin L.J.M., Fang L., Li Q., Lin H., Liu, B., Luo, R., Qin, N., Shao H., Xie, Y., Ye, C., Yu, C., Zhang F., Zheng H., Zhu H., Garrison, E.P., Kural, D., Lee W.-P., Fung Leong W., Ward, A.N., Wu J., Zhang, M., Griffin L., Hsieh, C.-H., Mills, R.E., Shi X., Von Grotthuss, M., Zhang, C., Daly, M.J., Depristo, M.A., Banks, E., Bhatia G., Carneiro, M.O., Del Angel G., Genovese G., Handsaker, R.E., Hartl, C., McCarroll, S.A., Nemesh J.C., Poplin, R.E., Schaffner, S.F., Shakir, K., Yoon, S.C., Lihm J., Makarov V., Jin H., Kim W., Cheol Kim, K., Rausch, T., Beal, K., Cunningham F., Herrero J., McLaren W.M., Ritchie G.R.S., Gottipati, S., Keinan, A., Rodriguez-Flores J.L., Sabeti P.C., Grossman, S.R., Tabrizi, S., Tariyal, R., Cooper, D.N., Ball, E.V., Stenson P.D., Barnes, B., Bauer, M., Keira Cheetham, R., Cox, T., Eberle, M., Kahn, S., Murray L., Peden J., Shaw, R., Ye, K., Batzer, M.A., Konkel, M.K., Walker J.A., MacArthur, D.G., Lek, M., Herwig, R., Shriver, M.D., Bustamante, C.D., Byrnes J.K., De La Vega F.M., Gravel, S., Kenny, E.E., Kidd J.M., Maples, B.K., Moreno-Estrada, A., Zakharia F., Halperin, E., Baran, Y., Craig, D.W., Christoforides, A., Homer, N., Izatt, T., Kurdoglu, A.A., Sinari, S.A., Squire, K., Xiao, C., Sebat J., Bafna V., Burchard, E.G., Hernandez, R.D., Gignoux, C.R., Haussler, D., Katzman, S.J., James Kent W., Howie, B., Ruiz-Linares, A., Dermitzakis, E.T., Lappalainen, T., Devine, S.E., Maroo, A., Tallon L.J., Rosenfeld J.A., Michelson L.P., Min Kang H., Anderson P., Angius, A., Bigham, A., Blackwell, T., Busonero F., Cucca F., Fuchsberger, C., Jones, C., Jun G., Lyons, R., Maschio, A., Porcu, E., Reinier F., Sanna, S., Schlessinger, D., Sidore, C., Tan, A., Kate Trost, M., Awadalla P., Hodgkinson, A., Lunter G., Marchini J.L., Myers, S., Churchhouse, C., Delaneau O., Gupta-Hinch, A., Iqbal, Z., Mathieson I., Rimmer, A., Xifara, D.K., Oleksyk, T.K., Fu, Y., Xiong, M., Jorde L., Witherspoon, D., Xing J., Browning, B.L., Alkan, C., Hajirasouliha I., Hormozdiari F., Ko, A., Sudmant P.H., Chen, K., Chinwalla, A., Ding L., Dooling, D., Koboldt, D.C., McLellan, M.D., Wallis J.W., Wendl, M.C., Zhang Q., Tyler-Smith, C., Albers, C.A., Ayub Q., Chen, Y., Coffey, A.J., Colonna V., Huang, N., Jostins L., Li H., Scally, A., Walter, K., Xue, Y., Zhang, Y., Gerstein, M.B., Abyzov, A., Balasubramanian, S., Chen J., Clarke, D., Habegger L., Harmanci, A.O., Jin, M., Khurana, E., Jasmine Mu X., Sisu, C., Degenhardt J., Stütz, A.M., Church, D., Michaelson J.J., Blackburne, B., Lindsay, S.J., Ning, Z., Frankish, A., Harrow J., Mu X.J., Fowler G., Hale W., Kalra, D., Barker J., Kelman G., Kulesha, E., Radhakrishnan, R., Roa, A., Smirnov, D., Streeter I., Toneva I., Vaughan, B., Ananiev V., Belaia, Z., Beloslyudtsev, D., Bouk, N., Chen, C., Cohen, R., Cook, C., Garner J., Hefferon, T., Kimelman, M., Liu, C., Lopez J., Meric P., O'Sullivan, C., Ostapchuk, Y., Phan L., Ponomarov, S., Schneider V., Shekhtman, E., Sirotkin, K., Slotta, D., Zhang H., Barnes, K.C., Beiswanger, C., Cai H., Cao H., Gharani, N., Henn, B., Jones, D., Kaye J.S., Kent, A., Kerasidou, A., Mathias, R., Ossorio P.N., Parker, M., Reich, D., Rotimi, C.N., Royal, C.D., Sandoval, K., Su, Y., Tian, Z., Tishkoff, S., Toji L.H., Via, M., Yang H., Yang L., Zhu J., Bodmer W., Bedoya G., Ming, C.Z., Yang G., Jia You, C., Peltonen L., Garcia-Montero, A., Orfao, A., Dutil J., Martinez-Cruzado J.C., Brooks L.D., Felsenfeld, A.L., McEwen J.E., Clemm, N.C., Duncanson, A., Dunn, M., Guyer, M.S., Peterson J.L., Lacroute P.

المصدر: Nature

مصطلحات موضوعية: transcription factor, untranslated RNA, algorithm, evolutionary biology, genetic analysis, genetic variation, genomics, human evolution, integrated approach, map, natural selection, polymorphism, article, binding site, chromatin immunoprecipitation, exome, frameshift mutation, gain of function mutation, gene frequency, gene linkage disequilibrium, genetic association, genetic variability, genotype, haplotype map, human, human genome, human genome project, indel mutation, loss of function mutation, priority journal

وصف الملف: application/pdf

Relation: http://dx.doi.org/10.1038/nature11632; 280836; http://hdl.handle.net/11693/21285

الاتاحة: http://hdl.handle.net/11693/21285
https://doi.org/10.1038/nature11632

المؤلفون: Altshuler, D., Durbin, R.M., Abecasis, G.R., Bentley, D.R., Chakravarti, A., Clark, A.G., Collins, F.S., Vega, F.M. de la, Donnelly, P., Egholm, M., Flicek, P., Gabriel, S.B., Gibbs, R.A., Knoppers, B.M., Lander, E.S., Lehrach, H., Mardis, E.R., McVean, G.A., Nickerson, D., Peltonen, L., Schafer, A.J., Sherry, S.T., Wang, J., Wilson, R.K., Deiros, D., Metzker, M., Muzny, D., Reid, J., Wheeler, D., Li, J.X., Jian, M., Li, G., Li, R.Q., Liang, H.Q., Tian, G., Wang, B., Wang, W., Yang, H.M., Zhang, X.Q., Zheng, H.S., Altshuler, D.L., Ambrogio, L., Bloom, T., Cibulskis, K., Fennell, T.J., Jaffe, D.B., Shefler, E., Sougnez, C.L., Gormley, N., Humphray, S., Kingsbury, Z., Koko-Gonzales, P., Stone, J., McKernan, K.J., Costa, G.L., Ichikawa, J.K., Lee, C.C., Sudbrak, R., Borodina, T.A., Dahl, A., Davydov, A.N., Marquardt, P., Mertes, F., Nietfeld, W., Rosenstiel, P., Schreiber, S., Soldatov, A.V., Timmermann, B., Tolzmann, M., Affourtit, J., Ashworth, D., Attiya, S., Bachorski, M., Buglione, E., Burke, A., Caprio, A., Celone, C., Clark, S., Conners, D., Desany, B., Gu, L., Guccione, L., Kao, K., Kebbel, A., Knowlton, J., Labrecque, M., McDade, L., Mealmaker, C., Minderman, M., Nawrocki, A., Niazi, F., Pareja, K., Ramenani, R., Riches, D., Song, W., Turcotte, C., Wang, S., Dooling, D., Fulton, L., Fulton, R., Weinstock, G., Burton, J., Carter, D.M., Churcher, C., Coffey, A., Cox, A., Palotie, A., Quail, M., Skelly, T., Stalker, J., Swerdlow, H.P., Turner, D., Witte, A. de, Giles, S., Bainbridge, M., Challis, D., Sabo, A., Yu, F., Yu, J., Fang, X.D., Guo, X.S., Li, Y.R., Luo, R.B., Tai, S., Wu, H.L., Zheng, H.C., Zheng, X.L., Zhou, Y., Marth, G.T., Garrison, E.P., Huang, W., Indap, A., Kural, D., Lee, W.P., Leong, W.F., Huang, W.C., Quinlan, A.R., Stewart, C., Stromberg, M.P., Ward, A.N., Wu, J.T., Lee, C., Mills, R.E., Shi, X.H., Daly, M.J., DePristo, M.A., Ball, A.D., Banks, E., Browning, B.L., Garimella, K.V., Grossman, S.R., Handsaker, R.E., Hanna, M., Hartl, C., Kernytsky, A.M., Korn, J.M., Li, H., Maguire, J.R., McCarroll, S.A., McKenna, A., Nemesh, J.C., Philippakis, A.A., Poplin, R.E., Price, A., Rivas, M.A., Sabeti, P.C., Schaffner, S.F., Shlyakhter, I.A., Cooper, D.N., Ball, E.V., Mort, M., Phillips, A.D., Stenson, P.D., Sebat, J., Makarov, V., Ye, K., Yoon, S.C., Bustamante, C.D., Boyko, A., Degenhardt, J., Gravel, S., Gutenkunst, R.N., Kaganovich, M., Keinan, A., Lacroute, P., Ma, X., Reynolds, A., Clarke, L., Cunningham, F., Herrero, J., Keenen, S., Kulesha, E., Leinonen, R., McLaren, W., Radhakrishnan, R., Smith, R.E., Zalunin, V., Zheng-Bradley, X.Q., Korbel, J.O., Stutz, A.M., Bauer, M., Cheetham, R.K., Cox, T., Eberle, M., James, T., Kahn, S., Murray, L., Fu, Y.T., Hyland, F.C.L., Manning, J.M., McLaughlin, S.F., Peckham, H.E., Sakarya, O., Sun, Y.A., Tsung, E.F., Batzer, M.A., Konkel, M.K., Walker, J.A., Albrecht, M.W., Amstislavskiy, V.S., Herwig, R., Parkhomchuk, D.V., Agarwala, R., Khouri, H., Morgulis, A.O., Paschall, J.E., Phan, L.D., Rotmistrovsky, K.E., Sanders, R.D., Shumway, M.F., Xiao, C.L., Auton, A., Iqbal, Z., Lunter, G., Marchini, J.L., Moutsianas, L., Myers, S., Tumian, A., Knight, J., Winer, R., Craig, D.W., Beckstrom-Sternberg, S.M., Christoforides, A., Kurdoglu, A.A., Pearson, J., Sinari, S.A., Tembe, W.D., Haussler, D., Hinrichs, A.S., Katzman, S.J., Kern, A., Kuhn, R.M., Przeworski, M., Hernandez, R.D., Howie, B., Kelley, J.L., Melton, S.C., Li, Y., Anderson, P., Blackwell, T., Chen, W., Cookson, W.O., Ding

المصدر: Nature

مصطلحات موضوعية: wide association gene-expression recombination hotspots meiotic recombination genotype imputation rare variants haplotype map nucleotide diseases common

Relation: lumc-id: 4396054; https://hdl.handle.net/1887/108463

الاتاحة: https://hdl.handle.net/1887/108463