Zoekresultaten - Ng, Pauline C

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

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

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

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

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

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

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

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SIFT web server: predicting effects of amino acid substitutions on proteins door 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 door 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 door 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 door 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 door 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 door 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 door 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 door 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 door 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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