Zobrazeno 1 - 10
of 189
pro vyhledávání: '"DePristo, Mark A"'
Autor:
Ren, Jie, Liu, Peter J., Fertig, Emily, Snoek, Jasper, Poplin, Ryan, DePristo, Mark A., Dillon, Joshua V., Lakshminarayanan, Balaji
Discriminative neural networks offer little or no performance guarantees when deployed on data not generated by the same process as the training distribution. On such out-of-distribution (OOD) inputs, the prediction may not only be erroneous, but con
Externí odkaz:
http://arxiv.org/abs/1906.02845
Autor:
Jun, Goo, Manning, Alisa, Almeida, Marcio, Zawistowski, Matthew, Wood, Andrew R., Teslovich, Tanya M., Fuchsberger, Christian, Feng, Shuang, Cingolani, Pablo, Gaulton, Kyle J., Dyer, Thomas, Blackwell, Thomas W., Chen, Han, Chines, Peter S., Choi, Sungkyoung, Churchhouse, Claire, Fontanillas, Pierre, King, Ryan, Lee, SungYoung, Lincoln, Stephen E., Trubetskoy, Vasily, DePristo, Mark, Fingerlin, Tasha, Grossman, Robert, Grundstad, Jason, Heath, Alison, Kim, Jayoun, Kim, Young Jin, Laramie, Jason, Lee, Jaehoon, Li, Heng, Liu, Xuanyao, Livne, Oren, Locke, Adam E., Maller, Julian, Mazur, Alexander, Morris, Andrew P., Pollin, Toni I., Ragona, Derek, Reich, David, Rivas, Manuel A., Scott, Laura J., Sim, Xueling, Tearle, Rick G., Teo, Yik Ying, Williams, Amy L., Zöllner, Sebastian, Curran, Joanne E., Peralta, Juan, Akolkar, Beena, Bell, Graeme I., Burtt, Noël P., Cox, Nancy J., Florez, Jose C., Hanis, Craig L., McKeon, Catherine, Mohlke, Karen L., Seielstad, Mark, Wilson, James G., Atzmon, Gil, Below, Jennifer E., Dupuis, Josée, Nicolae, Dan L., Lehman, Donna, Park, Taesung, Won, Sungho, Sladek, Robert, Altshuler, David, McCarthy, Mark I., Duggirala, Ravindranath, Boehnke, Michael, Frayling, Timothy M., Abecasis, Gonçalo R., Blangero, John
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2018 Jan 01. 115(2), 379-384.
Externí odkaz:
https://www.jstor.org/stable/26506276
Publikováno v:
Science, 2006 Apr 01. 312(5770), 111-114.
Externí odkaz:
https://www.jstor.org/stable/3845991
Autor:
1000 Genomes Project Consortium, MacArthur, Daniel G., Balasubramanian, Suganthi, Frankish, Adam, Huang, Ni, Morris, James, Walter, Klaudia, Jostins, Luke, Habegger, Lukas, Pickrell, Joseph K., Montgomery, Stephen B., Albers, Cornelis A., Zhang, Zhengdong D., Conrad, Donald F., Lunter, Gerton, Zheng, Hancheng, Ayub, Qasim, DePristo, Mark A., Banks, Eric, Hu, Min, Handsaker, Robert E., Rosenfeld, Jeffrey A., Fromer, Menachem, Jin, Mike, Mu, Xinmeng Jasmine, Khurana, Ekta, Ye, Kai, Kay, Mike, Saunders, Gary Ian, Suner, Marie-Marthe, Hunt, Toby, Barnes, H. A., Amid, Clara, Carvalho-Silva, Denise R., Bignell, Alexandra H., Snow, Catherine, Yngvadottir, Bryndis, Bumpstead, Suzannah, Cooper, David N., Xue, Yali, Romero, Irene Gallego, Wang, Jun, Li, Yingrui, Gibbs, Richard A., McCarroll, Steven A., Dermitzakis, Emmanouil T., Pritchard, Jonathan K., Barrett, Jeffrey C., Harrow, Jennifer, Hurles, Matthew E., Gerstein, Mark B., Tyler-Smith, Chris
Publikováno v:
Science, 2012 Feb . 335(6070), 823-828.
Externí odkaz:
http://dx.doi.org/10.1126/science.1215040
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2006 Jul . 103(29), 10901-10906.
Externí odkaz:
https://www.jstor.org/stable/30049380
Autor:
Rasmussen, Morten, Reddy, Mitsu, Nolan, Rory, Camunas-Soler, Joan, Khodursky, Arkady, Scheller, Nikolai M., Cantonwine, David E., Engelbrechtsen, Line, Mi, Jia Dai, Dutta, Arup, Brundage, Tiffany, Siddiqui, Farooq, Thao, Mainou, Gee, Elaine P. S., La, Johnny, Baruch-Gravett, Courtney, Santillan, Mark K., Deb, Saikat, Ame, Shaali M., Ali, Said M., Adkins, Melanie, DePristo, Mark A., Lee, Manfred, Namsaraev, Eugeni, Gybel-Brask, Dorte Jensen, Skibsted, Lillian, Litch, James A., Santillan, Donna A., Sazawal, Sunil, Tribe, Rachel M., Roberts, James M., Jain, Maneesh, Høgdall, Estrid, Holzman, Claudia, Quake, Stephen R., Elovitz, Michal A., McElrath, Thomas F.
Publikováno v:
Nature
Rasmussen, M, Reddy, M, Nolan, R, Camunas-Soler, J, Khodursky, A, Scheller, N M, Cantonwine, D E, Engelbrechtsen, L, Mi, J D, Dutta, A, Brundage, T, Siddiqui, F, Thao, M, Gee, E P S, La, J, Baruch-Gravett, C, Santillan, M K, Deb, S, Ame, S M, Ali, S M, Adkins, M, DePristo, M A, Lee, M, Namsaraev, E, Gybel-Brask, D J, Skibsted, L, Litch, J A, Santillan, D A, Sazawal, S, Tribe, R M, Roberts, J M, Jain, M, Hogdall, E, Holzman, C, Quake, S R, Elovitz, M A & McElrath, T F 2022, ' RNA profiles reveal signatures of future health and disease in pregnancy ', Nature, vol. 601, no. 7893, pp. 422-+ . https://doi.org/10.1038/s41586-021-04249-w
Rasmussen, M, Reddy, M, Nolan, R, Camunas-Soler, J, Khodursky, A, Scheller, N M, Cantonwine, D E, Engelbrechtsen, L, Mi, J D, Dutta, A, Brundage, T, Siddiqui, F, Thao, M, Gee, E P S, La, J, Baruch-Gravett, C, Santillan, M K, Deb, S, Ame, S M, Ali, S M, Adkins, M, DePristo, M A, Lee, M, Namsaraev, E, Gybel-Brask, D J, Skibsted, L, Litch, J A, Santillan, D A, Sazawal, S, Tribe, R M, Roberts, J M, Jain, M, Hogdall, E, Holzman, C, Quake, S R, Elovitz, M A & McElrath, T F 2022, ' RNA profiles reveal signatures of future health and disease in pregnancy ', Nature, vol. 601, no. 7893, pp. 422-+ . https://doi.org/10.1038/s41586-021-04249-w
Maternal morbidity and mortality continue to rise, and pre-eclampsia is a major driver of this burden1. Yet the ability to assess underlying pathophysiology before clinical presentation to enable identification of pregnancies at risk remains elusive.
Autor:
Carneiro Mauricio O, Russ Carsten, Ross Michael G, Gabriel Stacey B, Nusbaum Chad, DePristo Mark A
Publikováno v:
BMC Genomics, Vol 13, Iss 1, p 375 (2012)
Abstract Background Pacific Biosciences technology provides a fundamentally new data type that provides the potential to overcome some limitations of current next generation sequencing platforms by providing significantly longer reads, single molecul
Externí odkaz:
https://doaj.org/article/ae22c0c8f20b46848907b02100b0ce6c
Autor:
Carrington Mary, Gao Xiaojiang, Banks Eric, Anderson Scott, Jia Xiaoming, Erlich Rachel L, Gupta Namrata, DePristo Mark A, Henn Matthew R, Lennon Niall J, de Bakker Paul IW
Publikováno v:
BMC Genomics, Vol 12, Iss 1, p 42 (2011)
Abstract Background Comprehensive sequence characterization across the MHC is important for successful organ transplantation and genetic association studies. To this end, we have developed an automated sample preparation, molecular barcoding and mult
Externí odkaz:
https://doaj.org/article/7b1cca389eb34ec48bdfd6dc61d432b7