نتائج البحث - Ng, Pauline C
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Genetic Variation in an Individual Human Exome حسب Ng, Pauline C., Levy, Samuel, Huang, Jiaqi, Stockwell, Timothy B., Walenz, Brian P., Li, Kelvin, Axelrod, Nelson, Busam, Dana A., Strausberg, Robert L., Venter, J. Craig
منشور في 2008نص -
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Power to Detect Risk Alleles Using Genome-Wide Tag SNP Panels حسب Eberle, Michael A, Ng, Pauline C, Kuhn, Kenneth, Zhou, Lixin, Peiffer, Daniel A, Galver, Luana, Viaud-Martinez, Karine A, Lawley, Cynthia Taylor, Gunderson, Kevin L, Shen, Richard, Murray, Sarah S
منشور في 2007نص -
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The HuRef Browser: a web resource for individual human genomics حسب Axelrod, Nelson, Lin, Yuan, Ng, Pauline C., Stockwell, Timothy B., Crabtree, Jonathan, Huang, Jiaqi, Kirkness, Ewen, Strausberg, Robert L., Frazier, Marvin E., Venter, J. Craig, Kravitz, Saul, Levy, Samuel
منشور في 2009نص -
12
Evaluation of next generation sequencing platforms for population targeted sequencing studies حسب Harismendy, Olivier, Ng, Pauline C, Strausberg, Robert L, Wang, Xiaoyun, Stockwell, Timothy B, Beeson, Karen Y, Schork, Nicholas J, Murray, Sarah S, Topol, Eric J, Levy, Samuel, Frazer, Kelly A
منشور في 2009نص -
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Whole-genome risk prediction of common diseases in human preimplantation embryos حسب Kumar, Akash, Im, Kate, Banjevic, Milena, Ng, Pauline C., Tunstall, Tate, Garcia, Geronimo, Galhardo, Luisa, Sun, Jiayi, Schaedel, Oren N., Levy, Brynn, Hongo, Donna, Kijacic, Dusan, Kiehl, Michelle, Tran, Nam D., Klatsky, Peter C., Rabinowitz, Matthew
منشور في 2022نص -
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The Diploid Genome Sequence of an Individual Human حسب Levy, Samuel, Sutton, Granger, Ng, Pauline C, Feuk, Lars, Halpern, Aaron L, Walenz, Brian P, Axelrod, Nelson, Huang, Jiaqi, Kirkness, Ewen F, Denisov, Gennady, Lin, Yuan, MacDonald, Jeffrey R, Pang, Andy Wing Chun, Shago, Mary, Stockwell, Timothy B, Tsiamouri, Alexia, Bafna, Vineet, Bansal, Vikas, Kravitz, Saul A, Busam, Dana A, Beeson, Karen Y, McIntosh, Tina C, Remington, Karin A, Abril, Josep F, Gill, John, Borman, Jon, Rogers, Yu-Hui, Frazier, Marvin E, Scherer, Stephen W, Strausberg, Robert L, Venter, J. Craig
منشور في 2007نص -
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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder حسب Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., DeAngelis, Margaret M.
منشور في 2019نص -
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge حسب Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
منشور في 2014نص