검색결과 : 9건
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The GTEx Consortium atlas of genetic regulatory effects across human tissues Aguet F, Barbeira AN, Bonazzola R, Brown A, Castel SE, Jo B, Kasela S, Kim-Hellmuth S, Liang YY, Parsana P, Flynn E, Fresard L, Gamazon ER, Hamel AR, He Y, Hormozdiari F, Mohammadi P, Munoz-Aguirre M, Ardlie KG, Battle A, Bonazzola R, Brown CD, Cox N, Dermitzakis ET, Engelhardt BE, Garrido-Martin D, Gay NR, Getz G, Guigo R, Hamel AR, Handsaker RE, He Y, Hoffman PJ, Hormozdiari F, Im HK, Jo B, Kasela S, Kashin S, Kim-Hellmuth S, Kwong A, Lappalainen T, Li X, Liang YY, MacArthur DG, Mohammadi P, Montgomery SB, Munoz-Aguirre M, Rouhana JM, Hormozdiari F, Im HK, Kim-Hellmuth S, Ardlie KG, Getz G, Guigo R, Im HK, Lappalainen T, Montgomery SB, Im HK, Lappalainen T, Lappalainen T, Anand S, Gabriel S, Getz G, Graubert A, Hadley K, Handsaker RE, Huang KH, Kashin S, Li X, MacArthur DG, Meier SR, Nedzel JL, Balliu B, Conrad D, Cotter DJ, Das S, de Goede OM, Eskin E, Eulalio TY, Ferraro NM, Garrido-Martin D, Gay NR, Getz G, Graubert A, Guigo R, Hadley K, Hamel AR, Handsaker RE, He Y, Hoffman PJ, Hormozdiari F, Hou L, Huang KH, Im HK, Jo B, Kasela S, Kashin S, Kellis M, Kim-Hellmuth S, Kwong A, Lappalainen T, Li X, Li X, Liang YY, MacArthur DG, Mangul S, Meier SR, Mohammadi P, Montgomery SB, Munoz-Aguirre M, Nachun DC, Nedzel JL, Nguyen DY, Nobel AB, Park Y, Reverter F, Sabatti C, Saha A, Segre AV, Stephens M, Strober BJ, Teran NA, Todres E, Vinuela A, Wang G, Wen XQ, Wright F, Wucher V, Zou YX, Ferreira PG, Li G, Mele M, Yeger-Lotem E, Barcus ME, Bradbury D, Krubit T, McLean JA, Qi LQ, Robinson K, Roche NV, Smith AM, Tabor DE, Undale A, Bridge J, Brigham LE, Foster BA, Gillard BM, Hasz R, Hunter M, Johns C, Johnson M, Karasik E, Kopen G, Leinweber WF, McDonald A, Moser MT, Myer K, Ramsey KD, Roe B, Shad S, Thomas JA, Walters G, Washington M, Wheeler J, Jewell SD, Rohrer DC, Valley DR, Davis DA, Mash DC, Branton PA, Sobin L, Barker LK, Gardiner HM, Mosavel M, Siminoff LA, Flicek P, Haeussler M, Juettemann T, Kent WJ, Lee CM, Powell CC, Rosenbloom KR, Ruffier M, Sheppard D, Taylor K, Trevanion SJ, Zerbino DR, Abell NS, Akey J, Chen L, Demanelis K, Doherty JA, Feinberg AP, Hansen KD, Hickey PF, Hou L, Jasmine F, Jiang LH, Kaul R, Kellis M, Kibriya MG, Li JB, Li Q, Lin S, Linder SE, Montgomery SB, Oliva M, Park Y, Pierce BL, Rizzardi LF, Skol AD, Smith KS, Snyder M, Stamatoyannopoulos J, Tang H, Wang M, Carithers LJ, Guan P, Koester SE, Little AR, Moore HM, Nierras CR, Rao AK, Vaught JB, Volpi S Science, 369(6509), 1318, 2020 |
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The impact of sex on gene expression across human tissues Oliva M, Munoz-Aguirre M, Kim-Hellmuth S, Wucher V, Gewirtz ADH, Cotter DJ, Parsana P, Kasela S, Balliu B, Vinuela A, Castel SE, Mohammadi P, Aguet F, Zou YX, Khramtsova EA, Skol AD, Garrido-Martin D, Reverter F, Brown A, Evans P, Gamazon ER, Payne A, Bonazzola R, Barbeira AN, Hamel AR, Martinez-Perez A, Soria JM, Pierce BL, Stephens M, Eskin E, Dermitzakis ET, Segr AV, Im HK, Engelhardt BE, Ardlie KG, Montgomery SB, Battle AJ, Lappalainen T, Guigo R, Stranger BE Science, 369(6509), 1331, 2020 |
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Transcriptomic signatures across human tissues identify functional rare genetic variation Ferraro NM, Strober BJ, Einson J, Abell NS, Aguet F, Barbeira AN, Brandt M, Bucan M, Castel SE, Davis JR, Greenwald E, Hess GT, Hilliard AT, Kember RL, Kotis B, Park Y, Peloso G, Ramdas S, Scott AJ, Smail C, Tsang EK, Zekavat SM, Ziosi M, Aradhana, Ardlie KG, Assimes TL, Bassik MC, Brown CD, Correa A, Hall I, Im HK, Li X, Natarajan P, Lappalainen T, Mohammadi P, Montgomery SB, Battlett A Science, 369(6509), 1334, 2020 |
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Genetic effects on gene expression across human tissues Aguet F, Brown AA, Castel SE, Davis JR, He Y, Jo B, Mohammadi P, Park Y, Parsana P, Segre AV, Strober BJ, Zappala Z, Cummings BB, Gelfand ET, Hadley K, Huang KH, Lek M, Li X, Nedzel JL, Nguyen DY, Noble MS, Sullivan TJ, Tukiainen T, MacArthur DG, Getz G, Management NP, Addington A, Guan P, Koester S, Little AR, Lockhart NC, Moore HM, Rao A, Struewing JP, Volpi S, Collection B, Brigham LE, Hasz R, Hunter M, Johns C, Johnson M, Kopen G, Leinweber WF, Lonsdale JT, McDonald A, Mestichelli B, Myer K, Roe B, Salvatore M, Shad S, Thomas JA, Walters G, Washington M, Wheeler J, Bridge J, Foster BA, Gillard BM, Karasik E, Kumar R, Miklos M, Moser MT, Jewell SD, Montroy RG, Rohrer DC, Valley D, Mash DC, Davis DA, Sobin L, Barcus ME, Branton PA, Grp EMW, Abell NS, Balliu B, Delaneau O, Fresard L, Gamazon ER, Garrido-Martin D, Gewirtz ADH, Gliner G, Gloudemans MJ, Han B, He AZ, Hormozdiari F, Li X, Liu B, Kang EY, McDowell IC, Ongen H, Palowitch JJ, Peterson CB, Quon G, Ripke S, Saha A, Shabalin AA, Shimko TC, Sul JH, Teran NA, Tsang EK, Zhang H, Zhou YH, Bustamante CD, Cox NJ, Guigo R, Kellis M, McCarthy MI, Conrad DF, Eskin E, Li G, Nobel AB, Sabatti C, Stranger BE, Wen X, Wright FA, Ardlie KG, Dermitzakis ET, Lappalainen T, Battle A, Brown CD, Engelhardt BE, Montgomery SB, Aguet F, Ardlie KG, Cummings BB, Gelfand ET, Getz G, Hadley K, Handsaker RE, Huang KH, Kashin S, Karczewski KJ, Lek M, Li X, MacArthur DG, Nedzel JL, Nguyen DT, Noble MS, Segre AV, Trowbridge CA, Tukiainen T, Abell NS, Balliu B, Barshir R, Basha O, Battle A, Bogu GK, Brown A, Brown CD, Castel SE, Chen LS, Chiang C, Conrad DF, Cox NJ, Damani FN, Davis JR, Delaneau O, Dermitzakis ET, Engelhardt BE, Eskin E, Ferreira PG, Fresard L, Gamazon ER, Garrido-Martin D, Gewirtz ADH, Gliner G, Gloudemans MJ, Guigo R, Hall IM, Han B, He Y, Hormozdiari F, Howald C, Im HK, Jo B, Kang EY, Kim Y, Kim-Hellmuth S, Lappalainen T, Li G, Li X, Liu B, Mangul S, McCarthy MI, McDowell IC, Mohammadi P, Monlong J, Montgomery SB, Munoz-Aguirre M, Ndungu AW, Nicolae DL, Nobel AB, Oliva M, Ongen H, Palowitch JJ, Panousis N, Papasaikas P, Park Y, Parsana P, Payne AJ, Peterson CB, Quan J, Reverter F, Sabatti C, Saha A, Sammeth M, Scott AJ, Shabalin AA, Sodaei R, Stephens M, Stranger BE, Strober BJ, Sul JH, Tsang EK, Urbut S, De Bunt MV, Wang G, Wen X, Wright FA, Xi HS, Yeger-Lotem E, Zappala Z, Zaugg JB, Zhou YH, Akey JM, Bates D, Chan J, Chen LS, Claussnitzer M, Demanelis K, Diegel M, Doherty JA, Feinberg AP, Fernando MS, Halow J, Hansen KD, Haugen E, Hickey PF, Hou L, Jasmine F, Jian R, Jiang L, Johnson A, Kaul R, Kellis M, Kibriya MG, Lee K, Li JB, Li Q, Li X, Lin J, Lin S, Linder S, Linke C, Liu Y, Maurano MT, Molinie B, Montgomery SB, Nelson J, Neri FJ, Oliva M, Park Y, Pierce BL, Rinaldi NJ, Rizzardi LF, Sandstrom R, Skol A, Smith KS, Snyder MP, Stamatoyannopoulos J, Stranger BE, Tang H, Tsang EK, Wang L, Wang M, Van Wittenberghe N, Wu F, Zhang R, Fund NC, Nierras CR, Nci N, Branton PA, Carithers LJ, Guan P, Moore HM, Rao A, Vaught JB, Nhgri N, Gould SE, Lockart NC, Martin C, Struewing JP, Volpi S, Nimh N, Addington AM, Koester SE, Nida N, Little AR, Brigham LE, Hasz R, Hunter M, Johns C, Johnson M, Kopen G, Leinweber WF, Lonsdale JT, McDonald A, Mestichelli B, Myer K, Roe B, Salvatore M, Shad S, Thomas JA, Walters G, Washington M, Wheeler J, Bridge J, Foster BA, Gillard BM, Karasik E, Kumar R, Miklos M, Moser MT, Jewell SD, Montroy RG, Rohrer DC, Valley DR, Davis DA, Mash DC, Undale AH, Smith AM, Tabor DE, Roche NV, McLean JA, Vatanian N, Robinson KL, Sobin L, Barcus ME, Valentino KM, Qi L, Hunter S, Hariharan P, Singh S, Um KS, Matose T, Tomaszewski MM, Study E, Barker LK, Mosavel M, Siminoff LA, Traino HM, Flicek P, Juettemann T, Ruffier M, Sheppard D, Taylor K, Trevanion SJ, Zerbino DR, Craft B, Goldman M, Haeussler M, Kent WJ, Lee CM, Paten B, Rosenbloom KR, Vivian J, Zhu J Nature, 550(7675), 204, 2017 |
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The impact of rare variation on gene expression across tissues Li X, Kim Y, Sang EKT, Davis JR, Damani FN, Hiang CC, Hess GT, Zappala Z, Strober BJ, Scott AJ, Li A, Ganna A, Assik MCB, Merker JD, Hall IM, Attle AB, Montgomery SB Nature, 550(7675), 239, 2017 |
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A global reference for human genetic variation 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, Gibbs RA, Boerwinkle E, Doddapaneni H, Han Y, Korchina V, Kovar C, Lee S, Muzny D, Reid JG, Zhu YM, Wang J, Chang YQ, Feng Q, Fang XD, Guo XS, Jian M, Jiang H, Jin X, Lan TM, Li GQ, Li JX, Li YR, Liu SM, Liu X, Lu Y, Ma XD, Tang MF, Wang B, Wang GB, Wu HL, Wu RH, Xu X, Yin Y, Zhang DD, Zhang WW, Zhao J, Zhao MR, Zheng XL, Lander ES, Altshuler DM, Gabriel SB, Gupta N, Gharani N, Toji LH, Gerry NP, Resch AM, Flicek P, Barker J, Clarke L, Gil L, Hunt SE, Kelman G, Kulesha E, Leinonen R, McLaren WM, Radhakrishnan R, Roa A, Smirnov D, Smith RE, Streeter I, Thormann A, Toneva I, Vaughan B, Zheng-Bradley X, Bentley DR, Grocock R, Humphray S, James T, Kingsbury Z, Lehrach H, Sudbrak R, Albrecht MW, Amstislavskiy VS, Borodina TA, Lienhard M, Mertes F, Sultan M, Timmermann B, Yaspo ML, Mardis ER, Wilson RK, Fulton L, Fulton R, Sherry ST, Ananiev V, Belaia Z, Beloslyudtsev D, Bouk N, Chen C, Church D, Cohen R, Cook C, Garner J, Hefferon T, Kimelman M, Liu CL, Lopez J, Meric P, O'Sullivan C, Ostapchuk Y, Phan L, Ponomarov S, Schneider V, Shekhtman E, Sirotkin K, Slotta D, Zhang H, McVean GA, Durbin RM, Balasubramaniam S, Burton J, Danecek P, Keane TM, Kolb-Kokocinski A, McCarthy S, Stalker J, Quail M, Schmidt JP, Davies CJ, Gollub J, Webster T, Wong B, Zhan YP, Auton A, Campbell CL, Kong Y, Marcketta A, Gibbs RA, Yu FL, Antunes L, Bainbridge M, Muzny D, Sabo A, Huang ZY, Wang J, Coin LJM, Fang L, Guo XS, Jin X, Li GQ, Li QB, Li YR, Li ZY, Lin HX, Liu BH, Luo RB, Shao HJ, Xie YL, Ye C, Yu C, Zhang F, Zheng HC, Zhu HM, Alkan C, Dal E, Kahveci F, Marth GT, Garrison EP, Kural D, Lee WP, Leong WF, Stromberg M, Ward AN, Wu JT, Zhang MY, Daly MJ, DePristo MA, Handsaker RE, Altshuler DM, Banks E, Bhatia G, del Angel G, Gabriel SB, Genovese G, Gupta N, Li H, Kashin S, Lander ES, McCarroll SA, Nemesh JC, Poplin RE, Yoon SC, Lihm J, Makarov V, Clark AG, Gottipati S, Keinan A, Rodriguez-Flores JL, Korbel JO, Rausch T, Fritz MH, Stuetz AM, Flicek P, Beal K, Clarke L, Datta A, Herrero J, McLaren WM, Ritchie GRS, Smith RE, Zerbino D, Zheng-Bradley X, Sabeti PC, Shlyakhter I, Schaffner SF, Vitti J, Cooper DN, Ball EV, Stenson PD, Bentley DR, Barnes B, Bauer M, Cheetham RK, Cox A, Eberle M, Humphray S, Kahn S, Murray L, Peden J, Shaw R, Kenny EE, Batzer MA, Konkel MK, Walker JA, MacArthur DG, Lek M, Sudbrak R, Amstislavskiy VS, Herwig R, Mardis ER, Ding L, Koboldt DC, Larson D, Ye K, Gravel S, Swaroop A, Chew E, Lappalainen T, Erlich Y, Gymrek M, Willems TF, Simpson JT, Shriver MD, Rosenfeld JA, Bustamante CD, Montgomery SB, De La Vega FM, Byrnes JK, Carroll AW, DeGorter MK, Lacroute P, Maples BK, Martin AR, Moreno-Estrada A, Shringarpure SS, Zakharia F, Halperin E, Baran Y, Lee C, Cerveira E, Hwang J, Malhotra A, Plewczynski D, Radew K, Romanovitch M, Zhang CS, Hyland FCL, Craig DW, Christoforides A, Homer N, Izatt T, Kurdoglu AA, Sinari SA, Squire K, Sherry ST, Xiao CL, Sebat J, Antaki D, Gujral M, Noor A, Ye K, Burchard EG, Hernandez RD, Gignoux CR, Haussler D, Katzman SJ, Kent WJ, Howie B, Ruiz-Linares A, Dermitzakis ET, Devine SE, Goncalo RA, Kang HM, Kidd JM, Blackwell T, Caron S, Chen W, Emery S, Fritsche L, Fuchsberger C, Jun G, Li BS, Lyons R, Scheller C, Sidore C, Song SY, Sliwerska E, Taliun D, Tan A, Welch R, Wing MK, Zhan XW, Awadalla P, Hodgkinson A, Li Y, Shi XH, Quitadamo A, Lunter G, McVean GA, Marchini JL, Myers S, Churchhouse C, Delaneau O, Gupta-Hinch A, Kretzschmar W, Iqbal Z, Mathieson I, Menelaou A, Rimmer A, Xifara DK, Oleksyk TK, Fu YX, Liu XM, Xiong MM, Jorde L, Witherspoon D, Xing JC, Eichler EE, Browning BL, Browning SR, Hormozdiari F, Sudmant PH, Khurana E, Durbin RM, Hurles ME, Tyler-Smith C, Albers CA, Ayub Q, Balasubramaniam S, Chen Y, Colonna V, Danecek P, Jostins L, Keane TM, McCarthy S, Walter K, Xue YL, Gerstein MB, Abyzov A, Balasubramanian S, Chen JM, Clarke D, Fu Y, Harmanci AO, Jin M, Lee D, Liu J, Mu XJ, Zhang J, Zhang Y, Li YR, Luo RB, Zhu HM, Alkan C, Dal E, Kahveci F, Marth GT, Garrison EP, Kural D, Lee WP, Ward AN, Wu JT, Zhang MY, McCarroll SA, Handsaker RE, Altshuler DM, Banks E, Del Angel G, Genovese G, Hartl C, Li H, Kashin S, Nemesh JC, Shakir K, Yoon SC, Lihm J, Makarov V, Degenhardt J, Korbel JO, Fritz MH, Meiers S, Raeder B, Rausch T, Stuetz AM, Flicek P, Casale FP, Clarke L, Smith RE, Stegle O, Zheng-Bradley X, Bentley DR, Barnes B, Cheetham RK, Eberle M, Humphray S, Kahn S, Murray L, Shaw R, Lameijer EW, Batzer MA, Konkel MK, Walker JA, Ding L, Hall I, Ye K, Lacroute P, Lee C, Cerveira E, Malhotra A, Hwang J, Plewczynski D, Radew K, Romanovitch M, Zhang CS, Craig DW, Homer N, Church D, Xiao CL, Sebat J, Antaki D, Bafna V, Michaelson J, Ye K, Devine SE, Gardner EJ, Abecasis GR, Kidd JM, Mills RE, Dayama G, Emery S, Jun G, Shi XH, Quitadamo A, Lunter G, McVean GA, Chen K, Fan X, Chong ZC, Chen TH, Witherspoon D, Xing JC, Eichler EE, Chaisson MJ, Hormozdiari F, Huddleston J, Malig M, Nelson BJ, Sudmant PH, Parrish NF, Khurana E, Hurles ME, Ben Blackburne, Lindsay SJ, Ning ZM, Walter K, Zhang YJ, Gerstein MB, Abyzov A, Chen JM, Clarke D, Lam H, Mu XJ, Sisu C, Zhang J, Zhang Y, Gibbs RA, Yu FL, Bainbridge M, Challis D, Evani US, Kovar C, Lu J, Muzny D, Nagaswamy U, Reid JG, Sabo A, Yu J, Guo XS, Li WS, Li YR, Wu RH, Marth GT, Garrison EP, Leong WF, Ward AN, del Angel G, DePristo MA, Gabriel SB, Gupta N, Hartl C, Poplin RE, Clark AG, Rodriguez-Flores JL, Flicek P, Clarke L, Smith RE, Zheng-Bradley X, MacArthur DG, Mardis ER, Fulton R, Koboldt DC, Gravel S, Bustamante CD, Craig DW, Christoforides A, Homer N, Izatt T, Sherry ST, Xiao CL, Dermitzakis ET, Abecasis GR, Kang HM, McVean GA, Gerstein MB, Balasubramanian S, Habegger L, Yu HY, Flicek P, Clarke L, Cunningham F, Dunham I, Zerbino D, Zheng-Bradley X, Lage K, Jespersen JB, Horn H, Montgomery SB, DeGorter MK, Khurana E, Tyler-Smith C, Chen Y, Colonna V, Xue YL, Gerstein MB, Balasubramanian S, Fu Y, Kim D, Auton A, Marcketta A, Desalle R, Narechania A, Sayres MAW, Garrison EP, Handsaker RE, Kashin S, McCarroll SA, Rodriguez-Flores JL, Flicek P, Clarke L, Zheng-Bradley X, Erlich Y, Gymrek M, Willems TF, Bustamante CD, Mendez FL, Poznik GD, Underhill PA, Lee C, Cerveira E, Malhotra A, Romanovitch M, Zhang CS, Abecasis GR, Coin L, Shao HJ, Mittelman D, Tyler-Smith C, Ayub Q, Banerjee R, Cerezo M, Chen Y, Fitzgerald T, Louzada S, Massaia A, McCarthy S, Ritchie GR, Xue YL, Yang FT, Gibbs RA, Kovar C, Kalra D, Hale W, Muzny D, Reid JG, Wang J, Dan X, Guo XS, Li GQ, Li YR, Ye C, Zheng XL, Altshuler DM, Flicek P, Clarke L, Zheng-Bradley X, Bentley DR, Cox A, Humphray S, Kahn S, Sudbrak R, Albrecht MW, Lienhard M, Larson D, Craig DW, Izatt T, Kurdoglu AA, Sherry ST, Xiao CL, Haussler D, Abecasis GR, McVean GA, Durbin RM, Balasubramaniam S, Keane TM, McCarthy S, Stalker J, Chakravarti A, Knoppers BM, Abecasis GR, Barnes KC, Beiswanger C, Burchard EG, Bustamante CD, Cai HY, Cao HZ, Durbin RM, Gerry NP, Gharani N, Gibbs RA, Gignoux CR, Gravel S, Henn B, Jones D, Jorde L, Kaye JS, Keinan A, Kent A, Kerasidou A, Li YR, Mathias R, McVean GA, Moreno-Estrada A, Ossorio PN, Parker M, Resch AM, Rotimi CN, Royal CD, Sandoval K, Su YY, Sudbrak R, Tian ZM, Tishkoff S, Toji LH, Tyler-Smith C, Via M, Wang YH, Yang HM, Yang L, Zhu JY, Bodmer W, Bedoya G, Ruiz-Linares A, Cai ZM, Gao Y, Chu JY, Peltonen L, Garcia-Montero A, Orfao A, Dutil J, Martinez-Cruzado JC, Oleksyk TK, Barnes KC, Mathias RA, Hennis A, Watson H, McKenzie C, Qadri F, LaRocque R, Sabeti PC, Zhu JY, Deng XY, Sabeti PC, Asogun D, Folarin O, Happi C, Omoniwa O, Stremlau M, Tariyal R, Jallow M, Joof FS, Corrah T, Rockett K, Kwiatkowski D, Kooner J, Hien TT, Dunstan SJ, Hang NT, Fonnie R, Garry R, Kanneh L, Moses L, Sabeti PC, Schieffelin J, Grant DS, Gallo C, Poletti G, Saleheen D, Rasheed A, Brook LD, Felsenfeld A, McEwen JE, Vaydylevich Y, Green ED, Duncanson A, Dunn M, Schloss JA, Wang J, Yang HM, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR Nature, 526(7571), 68, 2015 |
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Effect of predicted protein-truncating genetic variants on the human transcriptome Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao FM, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG Science, 348(6235), 666, 2015 |
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Transcriptome and genome sequencing uncovers functional variation in humans Lappalainen T, Sammeth M, Friedlander MR, 't Hoen PAC, Monlong J, Rivas MA, Gonzalez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlof J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HPJ, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM, Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Haesler R, Syvaenen AC, Van Ommen GJ, Brazma A, Meitinger T, Rosenstiel P, Guigo R, Gut IG, Estivill X, Dermitzakis ET Nature, 501(7468), 506, 2013 |
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A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZDD, Conrad DF, Lunter G, Zheng HC, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IHA, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue YL, Romero IG, Wang J, Li YR, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C Science, 335(6070), 823, 2012 |