Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Brooks, Lisa D"'
Publikováno v:
Science, 2013 Jan . 339(6117), 275-276.
Externí odkaz:
http://dx.doi.org/10.1126/science.1234593
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1980 Aug 01. 77(8), 4838-4841.
Externí odkaz:
https://www.jstor.org/stable/9203
Autor:
1000 Genomes Project Consortium, Auton, Adam, Brooks, Lisa D, Durbin, Richard M, Garrison, Erik P, Kang, Hyun Min, Korbel, Jan O, Marchini, Jonathan L, McCarthy, Shane, McVean, Gil A, Abecasis, Gonçalo R
Publikováno v:
Nature, vol 526, iss 7571
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::45782559406636f0f431a3e7bd4d00d3
https://escholarship.org/uc/item/5kb776tt
https://escholarship.org/uc/item/5kb776tt
Autor:
Rehm, Heidi L, Berg, Jonathan S, Brooks, Lisa D, Bustamante, Carlos D, Evans, James P, Landrum, Melissa J, Ledbetter, David H, Maglott, Donna R, Martin, Christa Lese, Nussbaum, Robert L, Plon, Sharon E, Ramos, Erin M, Sherry, Stephen T, Watson, Michael S, ClinGen
Publikováno v:
The New England journal of medicine, vol 372, iss 23
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication. Given the d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::3a8f397b991f7af4ff3dbd7c8ccb2261
https://escholarship.org/uc/item/7jp0v4s6
https://escholarship.org/uc/item/7jp0v4s6
Autor:
Ramos, Erin M., Din-Lovinescu, Corina, Berg, Jonathan S., Brooks, Lisa D., Duncanson, Audrey, Dunn, Michael, Good, Peter, Hubbard, Tim, Jarvik, Gail P., O'Donnell, Christopher, Sherry, Stephen T., Aronson, Naomi, Biesecker, Leslie G., Blumberg, Bruce, Calonge, Ned, Colhoun, Helen M., Epstein, Robert S., Flicek, Paul, Gordon, Erynn S., Green, Eric D., Green, Robert C., Hurles, Matthew, Kawamoto, Kensaku, Knaus, William, Ledbetter, David H., Levy, Howard P., Lyon, Elaine, Maglott, Donna, McLeod, Howard L., Rahman, Nazneen, Randhawa, Gurvaneet, Wicklund, Catherine, Manolio, Teri A., Chisholm, Rex L., Williams, Marc S.
Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strateg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc84304db5f61181b0f7cb952f5cd89
Autor:
1000 Genomes Project Consortium, Abecasis, Goncalo R, Auton, Adam, Brooks, Lisa D, DePristo, Mark A, Durbin, Richard M, Handsaker, Robert E, Kang, Hyun Min, Marth, Gabor T, McVean, Gil A
Publikováno v:
Nature, vol 491, iss 7422
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8484aab3070b88e1606e99ecc476f5fd
https://escholarship.org/uc/item/8nq5k4qc
https://escholarship.org/uc/item/8nq5k4qc
Autor:
Durbin, Richard M., Altshuler, David L., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Collins, Francis S., De La Vega, Francisco M., Donnelly, Peter, Egholm, Michael, Flicek, Paul, Gabriel, Stacey B., Gibbs, Richard A., Knoppers, Bartha M., Lander, Eric S., Lehrach, Hans, Mardis, Elaine R., McVean, Gil A., Nickerson, Debbie A., Peltonen, Leena, Schafer, Alan J., Sherry, Stephen T., Wang, Jun, Wilson, Richard K., Deiros, David, Metzker, Mike, Muzny, Donna, Reid, Jeff, Wheeler, David, Li, Jingxiang, Jian, Min, Li, Guoqing, Li, Ruiqiang, Liang, Huiqing, Tian, Geng, Wang, Bo, Wang, Jian, Wang, Wei, Yang, Huanming, Zhang, Xiuqing, Zheng, Huisong, Ambrogio, Lauren, Bloom, Toby, Cibulskis, Kristian, Fennell, Tim J., Jaffe, David B., Shefler, Erica, Sougnez, Carrie L., Gormley, Niall, Humphray, Sean, Kingsbury, Zoya, Koko-Gonzales, Paula, Stone, Jennifer, McKernan, Kevin J., Costa, Gina L., Ichikawa, Jeffry K., Lee, Clarence C., Sudbrak, Ralf, Borodina, Tatiana A., Dahl, Andreas, Davydov, Alexey N., Marquardt, Peter, Mertes, Florian, Nietfeld, Wilfiried, Rosenstiel, Philip, Schreiber, Stefan, Soldatov, Aleksey V., Timmermann, Bernd, Tolzmann, Marius, Affourtit, Jason, Ashworth, Dana, Attiya, Said, Bachorski, Melissa, Buglione, Eli, Burke, Adam, Caprio, Amanda, Celone, Christopher, Clark, Shauna, Conners, David, Desany, Brian, Gu, Lisa, Guccione, Lorri, Kao, Kalvin, Kebbel, Andrew, Knowlton, Jennifer, Labrecque, Matthew, McDade, Louise, Mealmaker, Craig, Minderman, Melissa, Nawrocki, Anne, Niazi, Faheem, Pareja, Kristen, Ramenani, Ravi, Riches, David, Song, Wanmin, Turcotte, Cynthia, Wang, Shally, Dooling, David, Fulton, Lucinda, Fulton, Robert, Weinstock, George, Burton, John, Carter, David M., Churcher, Carol, Coffey, Alison, Cox, Anthony, Palotie, Aarno, Quail, Michael, Skelly, Tom, Stalker, James, Swerdlow, Harold P., Turner, Daniel, De Witte, Anniek, Giles, Shane, Bainbridge, Matthew, Challis, Danny, Sabo, Aniko, Yu, Fuli, Yu, Jin, Fang, Xiaodong, Guo, Xiaosen, Li, Yingrui, Luo, Ruibang, Tai, Shuaishuai, Wu, Honglong, Zheng, Hancheng, Zheng, Xiaole, Zhou, Yan, Marth, Gabor T., Garrison, Erik P., Huang, Weichun, Indap, Amit, Kural, Deniz, Lee, Wan-Ping, Fung Leong, Wen, Quinlan, Aaron R., Stewart, Chip, Stromberg, Michael P., Ward, Alistair N., Wu, Jiantao, Lee, Charles, Mills, Ryan E., Shi, Xinghua, Daly, Mark J., DePristo, Mark A., Ball, Aaron D., Banks, Eric, Browning, Brian L., Garimella, Kiran V., Grossman, Sharon R., Handsaker, Robert E., Hanna, Matt, Hartl, Chris, Kernytsky, Andrew M., Korn, Joshua M., Li, Heng, Maguire, Jared R., McCarroll, Steven A., McKenna, Aaron, Nemesh, James C., Philippakis, Anthony A., Poplin, Ryan E., Price, Alkes, Rivas, Manuel A., Sabeti, Pardis C., Schaffner, Stephen F., Shlyakhter, Ilya A., Cooper, David N., Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Stenson, Peter D., Sebat, Jonathan, Makarov, Vladimir, Ye, Kenny, Yoon, Seungtai C., Bustamante, Carlos D., Boyko, Adam, Degenhardt, Jeremiah, Gravel, Simon, Gutenkunst, Ryan N., Kaganovich, Mark, Keinan, Alon, Lacroute, Phil, Ma, Xin, Reynolds, Andy, Clarke, Laura, Cunningham, Fiona, Herrero, Javier, Keenen, Stephen, Kulesha, Eugene, Leinonen, Rasko, McLaren, William M., Radhakrishnan, Rajesh, Smith, Richard E., Zalunin, Vadim, Zheng-Bradley, Xiangqun, Korbel, Jan O., Stütz, Adrian M., Bauer, Markus, Keira Cheetham, R., Cox, Tony, Eberle, Michael, James, Terena, Kahn, Scott, Murray, Lisa, Ye, Kai, Fu, Yutao, Hyland, Fiona C. L., Manning, Jonathan M., McLaughlin, Stephen F., Peckham, Heather E., Sakarya, Onur, Sun, Yongming A., Tsung, Eric F., Batzer, Mark A., Konkel, Miriam K., Walker, Jerilyn A., Albrecht, Marcus W., Amstislavskiy, Vyacheslav S., Herwig, Ralf, Parkhomchuk, Dimitri V., Agarwala, Richa, Khouri, Hoda M., Morgulis, Aleksandr O., Paschall, Justin E., Phan, Lon D., Rotmistrovsky, Kirill E., Sanders, Robert D., Shumway, Martin F., Xiao, Chunlin, Auton, Adam, Iqbal, Zamin, Lunter, Gerton, Marchini, Jonathan L., Moutsianas, Loukas, Myers, Simon, Tumian, Afidalina, Knight, James, Winer, Roger, Craig, David W., Beckstrom-Sternberg, Steve M., Christoforides, Alexis, Kurdoglu, Ahmet A., Pearson, John V., Sinari, Shripad A., Tembe, Waibhav D., Haussler, David, Hinrichs, Angie S., Katzman, Sol J., Kern, Andrew, Kuhn, Robert M., Przeworski, Molly, Hernandez, Ryan D., Howie, Bryan, Kelley, Joanna L., Cord Melton, S., Li, Yun, Anderson, Paul, Blackwell, Tom, Chen, Wei, Cookson, William O., Ding, Jun, Min Kang, Hyun, Lathrop, Mark, Liang, Liming, Moffatt, Miriam F., Scheet, Paul, Sidore, Carlo, Snyder, Matthew, Zhan, Xiaowei, Zöllner, Sebastian, Awadalla, Philip, Casals, Ferran, Idaghdour, Youssef, Keebler, John, Stone, Eric A., Zilversmit, Martine, Jorde, Lynn, Xing, Jinchuan, Eichler, Evan E., Aksay, Gozde, Alkan, Can, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Kidd, Jeffrey M., Cenk Sahinalp, S., Sudmant, Peter H., Chen, Ken, Chinwalla, Asif, Ding, Li, Koboldt, Daniel C., McLellan, Mike D., Wallis, John W., Wendl, Michael C., Zhang, Qunyuan, Albers, Cornelis A., Ayub, Qasim, Balasubramaniam, Senduran, Barrett, Jeffrey C., Chen, Yuan, Conrad, Donald F., Danecek, Petr, Dermitzakis, Emmanouil T., Hu, Min, Huang, Ni, Hurles, Matt E., Jin, Hanjun, Jostins, Luke, Keane, Thomas M., Quang Le, Si, Lindsay, Sarah, Long, Quan, MacArthur, Daniel G., Montgomery, Stephen B., Parts, Leopold, Tyler-Smith, Chris, Walter, Klaudia, Zhang, Yujun, Gerstein, Mark B., Snyder, Michael, Abyzov, Alexej, Balasubramanian, Suganthi, Bjornson, Robert, Du, Jiang, Grubert, Fabian, Habegger, Lukas, Haraksingh, Rajini, Jee, Justin, Khurana, Ekta, Lam, Hugo Y. K., Leng, Jing, Jasmine Mu, Xinmeng, Urban, Alexander E., Zhang, Zhengdong, Coafra, Cristian, Dinh, Huyen, Kovar, Christie, Lee, Sandy, Nazareth, Lynne, Wilkinson, Jane, Coffey, Allison, Scott, Carol, Gharani, Neda, Kaye, Jane S., Kent, Alastair, Li, Taosha, McGuire, Amy L., Ossorio, Pilar N., Rotimi, Charles N., Su, Yeyang, Toji, Lorraine H., Brooks, Lisa D., Felsenfeld, Adam L., McEwen, Jean E., Abdallah, Assya, Juenger, Christopher R., Clemm, Nicholas C., Duncanson, Audrey, Green, Eric D., Guyer, Mark S., Peterson, Jane L.
Publikováno v:
Nature
Nature, 2010, 467 (7319), pp.1061-1073. ⟨10.1038/nature09534⟩
Nature; Vol 467
PMC
ResearcherID
Nature, 467(7319), 1061-1073
Durbin, R M, Altshuler, D, Abecasis, G R, Bentley, D R, Chakravarti, A, Clark, A G, Collins, F S, de la Vega, F M, Donnelly, P, Egholm, M, Flicek, P, Gabriel, S B, Gibbs, R A, Knoppers, B M, Lander, E S, Lehrach, H, Mardis, E R, McVean, G A, Nickerson, D A, Peltonen, L, Schafer, A J, Sherry, S T, Wang, J, Wilson, R K, Li, R & The 1000 Genomes Project Consortium 2010, ' A map of human genome variation from population-scale sequencing ', Nature, vol. 467, no. 7319, pp. 1061–1073 . https://doi.org/10.1038/nature09534
Nature, Vol. 467, No 7319 (2010) pp. 1061-73
Nature, 2010, 467 (7319), pp.1061-1073. ⟨10.1038/nature09534⟩
Nature; Vol 467
PMC
ResearcherID
Nature, 467(7319), 1061-1073
Durbin, R M, Altshuler, D, Abecasis, G R, Bentley, D R, Chakravarti, A, Clark, A G, Collins, F S, de la Vega, F M, Donnelly, P, Egholm, M, Flicek, P, Gabriel, S B, Gibbs, R A, Knoppers, B M, Lander, E S, Lehrach, H, Mardis, E R, McVean, G A, Nickerson, D A, Peltonen, L, Schafer, A J, Sherry, S T, Wang, J, Wilson, R K, Li, R & The 1000 Genomes Project Consortium 2010, ' A map of human genome variation from population-scale sequencing ', Nature, vol. 467, no. 7319, pp. 1061–1073 . https://doi.org/10.1038/nature09534
Nature, Vol. 467, No 7319 (2010) pp. 1061-73
April 1, 2011
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of th
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c837f74b531086923604e4fb1c1bab8
https://cea.hal.science/cea-00904997
https://cea.hal.science/cea-00904997
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Akademický článek
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