검색결과 : 18건
| No. | Article |
|---|---|
| 1 |
A structural variation reference for medical and population genetics (vol 581, pg 444, 2020) Collins RL, Brand H, Karczewski KJ, Zhao XF, Alfldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang HR, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang YQ, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YDI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, Gauthier LD, Talkowski ME Nature, 590(7846), E55, 2021 |
| 2 |
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 |
| 3 |
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 |
| 4 |
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 |
| 5 |
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 |
| 6 |
A structural variation reference for medical and population genetics Collins RL, Brand H, Karczewski KJ, Zhao X, Alfoldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang YQ, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YDI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME Nature, 581(7809), 444, 2020 |
| 7 |
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 |
| 8 |
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 |
| 9 |
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 |
| 10 |
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A, Khetarpal SA, Won HH, Karczewski KJ, O'Donnell-Luria AH, Samocha KE, Weisburd B, Gupta N, Zaidi M, Samuel M, Imran A, Abbas S, Majeed F, Ishaq M, Akhtar S, Trindade K, Mucksavage M, Qamar N, Zaman KS, Yaqoob Z, Saghir T, Rizvi SNH, Memon A, Mallick NH, Ishaq M, Rasheed SZ, Memon FUR, Mahmood K, Ahmed N, Do R, Krauss RM, MacArthur DG, Gabriel S, Lander ES, Daly MJ, Frossard P, Danesh J, Rader DJ, Kathiresan S Nature, 544(7649), 235, 2017 |