검색결과 : 11건
| No. | Article |
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| 1 |
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian XW, Browning BL, Das S, Emde AK, Clarke WE, Loesch DP, Shetty AC, Blackwell TW, Smith AV, Wong Q, Liu XM, Conomos MP, Bobo DM, Aguet F, Albert C, Alonso A, Ardlie KG, Arking DE, Aslibekyan S, Auer PL, Barnard J, Barr RG, Barwick L, Becker LC, Beer RL, Benjamin EJ, Bielak LF, Blangero J, Boehnke M, Bowden DW, Brody JA, Burchard EG, Cade BE, Casella JF, Chalazan B, Chasman DI, Chen YDI, Cho MH, Choi SH, Chung MK, Clish CB, Correa A, Curran JE, Custer B, Darbar D, Daya M, de Andrade M, DeMeo DL, Dutcher SK, Ellinor PT, Emery LS, Eng C, Fatkin D, Fingerlin T, Forer L, Fornage M, Franceschini N, Fuchsberger C, Fullerton SM, Germer S, Gladwin MT, Gottlieb DJ, Guo XQ, Hall ME, He J, Heard-Costa NL, Heckbert SR, Irvin MR, Johnsen JM, Johnson AD, Kaplan R, Kardia SLR, Kelly T, Kelly S, Kenny EE, Kiel DP, Klemmer R, Konkle BA, Kooperberg C, Kottgen A, Lange LA, Lasky-Su J, Levy D, Lin XH, Lin KH, Liu CY, Loos RJF, Garman L, Gerszten R, Lubitz SA, Lunetta KL, Mak ACY, Manichaikul A, Manning AK, Mathias RA, McManus DD, McGarvey ST, Meigs JB, Meyers DA, Mikulla JL, Minear MA, Mitchell BD, Mohanty S, Montasser ME, Montgomery C, Morrison AC, Murabito JM, Natale A, Natarajan P, Nelson SC, North KE, O'Connell JR, Palmer ND, Pankratz N, Peloso GM, Peyser PA, Pleiness J, Post WS, Psaty BM, Rao DC, Redline S, Reiner AP, Roden D, Rotter JI, Ruczinski I, Sarnowski C, Schoenherr S, Schwartz DA, Seo JS, Seshadri S, Sheehan VA, Sheu WH, Shoemaker MB, Smith NL, Smith JA, Sotoodehnia N, Stilp AM, Tang WH, Taylor KD, Telen M, Thornton TA, Tracy RP, Van den Berg DJ, Vasan RS, Viaud-Martinez KA, Vrieze S, Weeks DE, Weir BS, Weiss ST, Weng LC, Willer CJ, Zhang YZ, Zhao XT, Arnett DK, Ashley-Koch AE, Barnes KC, Boerwinkle E, Gabriel S, Gibbs R, Rice KM, Rich SS, Silverman EK, Qasba P, Gan WN, Papanicolaou GJ, Nickerson DA, Browning SR, Zody MC, Zollner S, Wilson JG, Cupples LA, Laurie CC, Jaquish CE, Hernandez RD, O'Connor TD, Abecasis GR Nature, 590(7845), 2021 |
| 2 |
Cryptic transmission of SARS-CoV-2 in Washington state Bedford T, Greninger AL, Roychoudhury P, Starita LM, Famulare M, Huang ML, Nalla A, Pepper G, Reinhardt A, Xie H, Shrestha L, Nguyen TN, Adler A, Brandstetter E, Cho S, Giroux D, Han PD, Fay K, Frazar CD, Ilcisin M, Lacombe K, Lee J, Kiavand A, Richardson M, Sibley TR, Truong M, Wolf CR, Nickerson DA, Rieder MJ, Englund JA, Hadfield J, Hodcroft EB, Huddleston J, Moncla LH, Muller NF, Neher RA, Deng XD, Gu W, Federman S, Chiu C, Duchin JS, Gautom R, Melly G, Hiatt B, Dykema P, Lindquist S, Queen K, Tao Y, Uehara A, Tong SX, MacCannell D, Armstrong GL, Baird GS, Chu HY, Shendure J, Jerome KR Science, 370(6516), 571, 2020 |
| 3 |
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction Do R, Stitziel NO, Won HH, Jorgensen AB, Duga S, Merlini PA, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AFR, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li MY, Burke GL, Gross M, Liu YM, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WHW, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S Nature, 518(7537), 102, 2015 |
| 4 |
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 |
| 5 |
The contribution of de novo coding mutations to autism spectrum disorder Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei LP, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang ZH, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma BC, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M Nature, 515(7526), 216, 2014 |
| 6 |
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants Fu WQ, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Akey JM Nature, 493(7431), 216, 2013 |
| 7 |
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (vol 493, pg 216, 2013) Fu WQ, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Akey JM Nature, 495(7440), 270, 2013 |
| 8 |
A statin-dependent QTL for GATM expression is associated with statin-induced myopathy Mangravite LM, Engelhardt BE, Medina MW, Smith JD, Brown CD, Chasman DI, Mecham BH, Howie B, Shim H, Naidoo D, Feng QP, Rieder MJ, Chen YDI, Rotter JI, Ridker PM, Hopewell JC, Parish S, Armitage J, Collins R, Wilke RA, Nickerson DA, Stephens M, Krauss RM Nature, 502(7471), 377, 2013 |
| 9 |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE Nature, 485(7397), 246, 2012 |
| 10 |
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes Tennessen JA, Bigham AW, O'Connor TD, Fu WQ, Kenny EE, Gravel S, McGee S, Do R, Liu XM, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM Science, 337(6090), 64, 2012 |