A framework for variation discovery and genotyping using next-generation DNA sequencing data von DePristo, Mark A, Banks, Eric, Poplin, Ryan, Garimella, Kiran V, Maguire, Jared R, Hartl, Christopher, Philippakis, Anthony A, del Angel, Guillermo, Rivas, Manuel A, Hanna, Matt, McKenna, Aaron, Fennell, Tim J, Kernytsky, Andrew M, Sivachenko, Andrey Y, Cibulskis, Kristian, Gabriel, Stacey B, Altshuler, David, Daly, Mark J

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Targeted Inhibition of Mutant IDH2 in Leukemia Cells Induces Cellular Differentiation von Wang, Fang, Travins, Jeremy, DeLaBarre, Byron, Penard-Lacronique, Virginie, Schalm, Stefanie, Hansen, Erica, Straley, Kimberly, Kernytsky, Andrew, Liu, Wei, Gliser, Camelia, Yang, Hua, Gross, Stefan, Artin, Erin, Saada, Veronique, Mylonas, Elena, Quivoron, Cyril, Popovici-Muller, Janeta, Saunders, Jeffrey O., Salituro, Francesco G., Yan, Shunqi, Murray, Stuart, Wei, Wentao, Gao, Yi, Dang, Lenny, Dorsch, Marion, Agresta, Sam, Schenkein, David P., Biller, Scott A., Su, Shinsan M., de Botton, Stephane, Yen, Katharine E.

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CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia von Frangoul, Haydar, Altshuler, David, Cappellini, M. Domenica, Chen, Yi-Shan, Domm, Jennifer, Eustace, Brenda K, Foell, Juergen, de la Fuente, Josu, Grupp, Stephan, Handgretinger, Rupert, Ho, Tony W, Kattamis, Antonis, Kernytsky, Andrew, Lekstrom-Himes, Julie, Li, Amanda M, Locatelli, Franco, Mapara, Markus Y, de Montalembert, Mariane, Rondelli, Damiano, Sharma, Akshay, Sheth, Sujit, Soni, Sandeep, Steinberg, Martin H, Wall, Donna, Yen, Angela, Corbacioglu, Selim

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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data von McKenna, Aaron, Hanna, Matthew, Banks, Eric, Sivachenko, Andrey, Cibulskis, Kristian, Kernytsky, Andrew, Garimella, Kiran, Altshuler, David, Gabriel, Stacey, Daly, Mark, DePristo, Mark A

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An Inhibitor of Mutant IDH1 Delays Growth and Promotes Differentiation of Glioma Cells von Rohle, Dan, Popovici-Muller, Janeta, Palaskas, Nicolaos, Turcan, Sevin, Grommes, Christian, Campos, Carl, Tsoi, Jennifer, Clark, Owen, Oldrini, Barbara, Komisopoulou, Evangelia, Kunii, Kaiko, Pedraza, Alicia, Schalm, Stefanie, Silverman, Lee, Miller, Alexandra, Wang, Fang, Yang, Hua, Chen, Yue, Kernytsky, Andrew, Rosenblum, Marc K., Liu, Wei, Biller, Scott A., Su, Shinsan M., Brennan, Cameron W., Chan, Timothy A., Graeber, Thomas G., Yen, Katharine E., Mellinghoff, Ingo K.

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MTAP Deletions in Cancer Create Vulnerability to Targeting of the MAT2A/PRMT5/RIOK1 Axis von Marjon, Katya, Cameron, Michael J., Quang, Phong, Clasquin, Michelle F., Mandley, Everton, Kunii, Kaiko, McVay, Michael, Choe, Sung, Kernytsky, Andrew, Gross, Stefan, Konteatis, Zenon, Murtie, Joshua, Blake, Michelle L., Travins, Jeremy, Dorsch, Marion, Biller, Scott A., Marks, Kevin M.

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IDH2 mutation-induced histone and DNA hypermethylation is progressively reversed by small-molecule inhibition von Kernytsky, Andrew, Wang, Fang, Hansen, Erica, Schalm, Stefanie, Straley, Kimberly, Gliser, Camelia, Yang, Hua, Travins, Jeremy, Murray, Stuart, Dorsch, Marion, Agresta, Sam, Schenkein, David P., Biller, Scott A., Su, Shinsan M., Liu, Wei, Yen, Katharine E.

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Transmembrane helix predictions revisited von Chen, Chien Peter, Kernytsky, Andrew, Rost, Burkhard

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Using multiple structure alignments, fast model building, and energetic analysis in fold recognition and homology modeling von Petrey, Donald, Xiang, Zhexin, Tang, Christopher L., Xie, Lei, Gimpelev, Marina, Mitros, Therese, Soto, Cinque S., Goldsmith-Fischman, Sharon, Kernytsky, Andrew, Schlessinger, Avner, Koh, Ingrid Y.Y., Alexov, Emil, Honig, Barry

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Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia von Musunuru, Kiran, Pirruccello, James P, Do, Ron, Peloso, Gina M, Guiducci, Candace, Sougnez, Carrie, Garimella, Kiran V, Fisher, Sheila, Abreu, Justin, Barry, Andrew J, Fennell, Tim, Banks, Eric, Ambrogio, Lauren, Cibulskis, Kristian, Kernytsky, Andrew, Gonzalez, Elena, Rudzicz, Nicholas, Engert, James C, DePristo, Mark A, Daly, Mark J, Cohen, Jonathan C, Hobbs, Helen H, Altshuler, David, Schonfeld, Gustav, Gabriel, Stacey B, Yue, Pin, Kathiresan, Sekar

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Using genetic algorithms to select most predictive protein features von Kernytsky, Andrew, Rost, Burkhard

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Static benchmarking of membrane helix predictions von Kernytsky, Andrew, Rost, Burkhard

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The functional spectrum of low-frequency coding variation von Marth, Gabor T, Yu, Fuli, Indap, Amit R, Garimella, Kiran, Gravel, Simon, Leong, Wen Fung, Tyler-Smith, Chris, Bainbridge, Matthew, Blackwell, Tom, Zheng-Bradley, Xiangqun, Chen, Yuan, Challis, Danny, Clarke, Laura, Ball, Edward V, Cibulskis, Kristian, Cooper, David N, Fulton, Bob, Hartl, Chris, Koboldt, Dan, Muzny, Donna, Smith, Richard, Sougnez, Carrie, Stewart, Chip, Ward, Alistair, Yu, Jin, Xue, Yali, Altshuler, David, Bustamante, Carlos D, Clark, Andrew G, Daly, Mark, DePristo, Mark, Flicek, Paul, Gabriel, Stacey, Mardis, Elaine, Palotie, Aarno, Gibbs, Richard

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Membrane protein prediction methods von Punta, Marco, Forrest, Lucy R., Bigelow, Henry, Kernytsky, Andrew, Liu, Jinfeng, Rost, Burkhard

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CRISPR/Cas9 Genome Editing to Treat Sickle Cell Disease and B-Thalassemia: Re-Creating Genetic Variants to Upregulate Fetal Hemoglobin Appear Well-Tolerated, Effective and Durable von Lin, Michelle I., Paik, Elizabeth, Mishra, Bibhu, Burkhardt, David, Kernytsky, Andrew, Pettiglio, Michael, Chen, Yi-Shan, Tomkinson, Kaleigh, Woo, Amanda, Cortes, Mauricio, Tan, Siyuan, Borland, Todd D, Klein, Lawrence, Yen, Angela, Mahajan, Sudipta, Chan, Eric, Eustace, Brenda, Porteus, Matthew, Chakraborty, Tirtha, Cowan, Chad, Novak, Rodger, Lundberg, Ante

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Targeted Exon Sequencing by In‐Solution Hybrid Selection von Blumenstiel, Brendan, Cibulskis, Kristian, Fisher, Sheila, DeFelice, Matthew, Barry, Andrew, Fennell, Tim, Abreu, Justin, Minie, Brian, Costello, Maura, Young, Geneva, Maquire, Jared, Kernytsky, Andrew, Melnikov, Alexandre, Rogov, Peter, Gnirke, Andreas, Gabriel, Stacey

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A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model von Wang, Fang, Travins, Jeremy, Lin, Zhizhong, Si, Yaguang, Chen, Yue, Powe, Josh, Murray, Stuart, Zhu, Dongwei, Artin, Erin, Gross, Stefan, Santiago, Stephanie, Steadman, Mya, Kernytsky, Andrew, Straley, Kimberly, Lu, Chenming, Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Salomons, Gajja S., David, Muriel D., Quivoron, Cyril, Penard-Lacronique, Virginie, Regan, Karen S., Liu, Wei, Dang, Lenny, Yang, Hua, Silverman, Lee, Agresta, Samuel, Dorsch, Marion, Biller, Scott, Yen, Katharine, Cang, Yong, Su, Shin-San Michael, Jin, Shengfang

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Abstract 2296: IDH2 mutation induced histone and DNA hypermethylation is progressively reversed by small molecule inhibition von Kernytsky, Andrew, Wang, Fang, Hansen, Erica, Schalm, Stefanie, Straley, Kimberly, Gliser, Camelia, Yang, Hua, Travins, Jeremy, Murray, Stuart, Dorsch, Marion, Agresta, Sam, Schenkein, David P., Biller, Scott A., Su, Shinsan M., Liu, Wei, Yen, Katharine E.

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Small Molecule Activation Of Pyruvate Kinase Normalizes Metabolic Activity In Red Cells From Patients With Pyruvate Kinase Deficiency-Associated Hemolytic Anemia von Kung, Charles, Hixon, Jeff, Kosinski, Penelope, Histen, Gavin, Hill, Collin, Si, Yaguang, Kernytsky, Andrew, Chen, Yue, DeLaBarre, Byron, Clasquin, Michelle, Ho, Helen, Cossor, Furha I., Neufeld, Ellis J., Salituro, Frank, Popovici-Muller, Janeta, Agresta, Samuel, Silverman, Lee, Dang, Lenny

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Mutation Selective IDH Inhibitors Mediate Histone and DNA Methylation Changes von Yen, Katharine, Wang, Fang, Schalm, Stefanie, Hansen, Erica, Straley, Kimberly, Kernytsky, Andrew, Choe, Sung, Liu, Wei, Popovici-Muller, Janeta, Travins, Jeremy, Yang, Hua, Silverman, Lee, Aurore, Julie Losman, Kaelin, William G., Gross, Stefan, Dang, Lenny, Salituro, Frank, Saunders, Jeffrey, Dorsch, Marion, Agresta, Samuel, Schenkein, David P., Su, Michael, Biller, Scott

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