검색결과 : 10건
| No. | Article |
|---|---|
| 1 |
Transcript expression-aware annotation improves rare variant interpretation (vol 581, pg 452, 2020) Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alfldi J, Daly MJ, MacArthur DG Nature, 590(7846), E54, 2021 |
| 2 |
The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020) Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfldi J, Wang QB, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Aggregation G, Neale BM, Daly MJ, MacArthur DG Nature, 590(7846), E53, 2021 |
| 3 |
Evaluating drug targets through human loss-of-function genetic variation (vol 581, pg 459, 2020) Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alfldi J, Trembath RC, van Heel DA, Daly MJ, Schreiber SL, MacArthur DG Nature, 590(7846), E56, 2021 |
| 4 |
The mutational constraint spectrum quantified from variation in 141,456 humans Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang QB, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG Nature, 581(7809), 434, 2020 |
| 5 |
Transcript expression-aware annotation improves rare variant interpretation Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alfoldi J, Daly MJ, MacArthur DG Nature, 581(7809), 452, 2020 |
| 6 |
Evaluating drug targets through human loss-of-function genetic variation Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alfoldi J, Trembath RC, van Heel DA, Daly MJ, Schreiber SL, MacArthur DG Nature, 581(7809), 459, 2020 |
| 7 |
Genetic regulatory variation in populations informs transcriptome analysis in rare disease Mohammadi P, Castel SE, Cummings BB, Einson J, Sousa C, Hoffman P, Donkervoort S, Jiang ZX, Mohassel P, Foley AR, Wheeler HE, Im HK, Bonnemann CG, MacArthur DG, Lappalainen T Science, 366(6463), 351, 2019 |
| 8 |
Landscape of X chromosome inactivation across human tissues (vol 550, pg 244, 2017) Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A, Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG Nature, 555(7695), 2018 |
| 9 |
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 |
| 10 |
Analysis of protein-coding genetic variation in 60,706 humans Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao FM, Zou J, Pierce-Hollman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozeo L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu DM, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, NcCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG Nature, 536(7616), 285, 2016 |