Arama Sonuçları - Ng, Pauline C

Accounting for Human Polymorphisms Predicted to Affect Protein Function Yazar: Ng, Pauline C., Henikoff, Steven

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SIFT: predicting amino acid changes that affect protein function Yazar: Ng, Pauline C., Henikoff, Steven

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Predicting Deleterious Amino Acid Substitutions Yazar: Ng, Pauline C., Henikoff, Steven

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Predicting the effects of frameshifting indels Yazar: Hu, Jing, Ng, Pauline C

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SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins Yazar: Hu, Jing, Ng, Pauline C.

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Predicting cancer drivers: are we there yet? Yazar: Krishnan, Vidhya G, Ng, Pauline C

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Molecular fingerprinting catches responders to therapeutic agents Yazar: Malik, Simeen, Tan, Patrick, Ng, Pauline C

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SIFT web server: predicting effects of amino acid substitutions on proteins Yazar: Sim, Ngak-Leng, Kumar, Prateek, Hu, Jing, Henikoff, Steven, Schneider, Georg, Ng, Pauline C.

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Genetic Variation in an Individual Human Exome Yazar: 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

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Power to Detect Risk Alleles Using Genome-Wide Tag SNP Panels Yazar: 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

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The HuRef Browser: a web resource for individual human genomics Yazar: 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

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Evaluation of next generation sequencing platforms for population targeted sequencing studies Yazar: 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

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Whole-genome risk prediction of common diseases in human preimplantation embryos Yazar: 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

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The Diploid Genome Sequence of an Individual Human Yazar: 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

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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder Yazar: 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.

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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 Yazar: 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

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