دورية أكاديمية

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

التفاصيل البيبلوغرافية
العنوان: Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
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
سنة النشر: 2013
الوصف: Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then we experimentally validated candidates. We analyzed both coding and noncoding regions, with the former corroborating the latter. We found regions particularly sensitive to mutations ("ultrasensitive") and variants that are disruptive because of mechanistic effects on transcription-factor binding (that is, "motif-breakers"). We also found variants in regions with higher network centrality tend to be deleterious. Insertions and deletions followed a similar pattern to single-nucleotide variants, with some notable exceptions (e. g., certain deletions and enhancers). On the basis of these patterns, we developed a computational tool (FunSeq), whose application to similar to 90 cancer genomes reveals nearly a hundred candidate noncoding drivers.
نوع الوثيقة: article in journal/newspaper
اللغة: English
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000325126100049; volume:342; issue:6154; firstpage:84; journal:SCIENCE; http://hdl.handle.net/11388/78187Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84885639776
DOI: 10.1126/science.1235587
الإتاحة: https://doi.org/10.1126/science.1235587Test
http://hdl.handle.net/11388/78187Test
رقم الانضمام: edsbas.EC2AB18B
قاعدة البيانات: BASE