Integrated detection and population-genetic analysis of SNPs and copy number variation von McCarroll, Steven A, Altshuler, David, Kuruvilla, Finny G, Korn, Joshua M, Cawley, Simon, Nemesh, James, Wysoker, Alec, Shapero, Michael H, de Bakker, Paul I W, Maller, Julian B, Kirby, Andrew, Elliott, Amanda L, Parkin, Melissa, Hubbell, Earl, Webster, Teresa, Mei, Rui, Veitch, James, Collins, Patrick J, Handsaker, Robert, Lincoln, Steve, Nizzari, Marcia, Blume, John, Jones, Keith W, Rava, Rich, Daly, Mark J, Gabriel, Stacey B

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Melanoma genome sequencing reveals frequent PREX2 mutations von Berger, Michael F., Hodis, Eran, Heffernan, Timothy P., Deribe, Yonathan Lissanu, Lawrence, Michael S., Protopopov, Alexei, Ivanova, Elena, Watson, Ian R., Nickerson, Elizabeth, Ghosh, Papia, Zhang, Hailei, Zeid, Rhamy, Ren, Xiaojia, Cibulskis, Kristian, Sivachenko, Andrey Y., Wagle, Nikhil, Sucker, Antje, Sougnez, Carrie, Onofrio, Robert, Ambrogio, Lauren, Auclair, Daniel, Fennell, Timothy, Carter, Scott L., Drier, Yotam, Stojanov, Petar, Singer, Meredith A., Voet, Douglas, Jing, Rui, Saksena, Gordon, Barretina, Jordi, Ramos, Alex H., Pugh, Trevor J., Stransky, Nicolas, Parkin, Melissa, Winckler, Wendy, Mahan, Scott, Ardlie, Kristin, Baldwin, Jennifer, Wargo, Jennifer, Schadendorf, Dirk, Meyerson, Matthew, Gabriel, Stacey B., Golub, Todd R., Wagner, Stephan N., Lander, Eric S., Getz, Gad, Chin, Lynda, Garraway, Levi A.

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Adult Cleft Palate Repair: It’s Worth a Shot von Haydon, Nicholas, Semple, Harriet, Parkin, Melissa, Taplin, Michael, Boorer, Catherine, Ho, Kevin

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Australian children with cleft palate achieve age-appropriate speech by 5 years of age von Chacon, Antonia, Parkin, Melissa, Broome, Kate, Purcell, Alison

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing von Kirby, Andrew, Gnirke, Andreas, Jaffe, David B, Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T, Cabili, Moran N, Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E, Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J, Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C, Xavier, Ramnik J, Pollak, Martin R, Alper, Seth L, Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J, Lander, Eric S, Daly, Mark J

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Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus von Behrens, Timothy W, Lessard, Christopher J, Cotsapas, Chris, Burtt, Noel P, Vyse, Timothy J, Davies, Leela, Hackett, Rachel, Leon, Joanlise M, Rioux, John D, Daly, Mark J, Altshuler, David, Gaffney, Patrick M, Cunninghame Graham, Deborah, Plenge, Robert M, Graham, Robert R, Parkin, Melissa, Gates, Casey, Moser, Kathy L, Wither, Joan E, Fortin, Paul R, Guiducci, Candace, Wong, Andrew K

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Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A - TCF7L2 fusion von Getz, Gad, Meyerson, Matthew, Bass, Adam J, Lawrence, Michael S, Brace, Lear E, Ramos, Alex H, Drier, Yotam, Cibulskis, Kristian, Sougnez, Carrie, Voet, Douglas, Saksena, Gordon, Sivachenko, Andrey, Jing, Rui, Parkin, Melissa, Pugh, Trevor, Verhaak, Roel G, Stransky, Nicolas, Boutin, Adam T, Barretina, Jordi, Solit, David B, Vakiani, Evi, Shao, Wenlin, Mishina, Yuji, Warmuth, Markus, Jimenez, Jose, Chiang, Derek Y, Signoretti, Sabina, Kaelin, William G, Spardy, Nicole, Hahn, William C, Hoshida, Yujin, Ogino, Shuji, DePinho, Ronald A, Chin, Lynda, Garraway, Levi A, Fuchs, Charles S, Baselga, Jose, Tabernero, Josep, Gabriel, Stacey, Lander, Eric S

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Feasibility of High-Throughput Genome-Wide Genotyping using DNA from Stored Buccal Cell Samples von Loomis, Stephanie J., Olson, Lana M., Pasquale, Louis R., Wiggs, Janey, Mirel, Daniel, Crenshaw, Andrew, Parkin, Melissa, Rahhal, Brandon, Tetreault, Stephanie, Kraft, Peter, Tworoger, Shelley S., Haines, Jonathan L., Kang, Jae H.

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Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing von Kirby, Andrew, Gnirke, Andreas, Jaffe, David B, Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T, Cabili, Moran N, Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E, Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J, Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C, Xavier, Ramnik J, Pollak, Martin R, Alper, Seth L, Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J, Lander, Eric S, Daly, Mark J

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Mutational heterogeneity in cancer and the search for new cancer genes von Lawrence, Michael S, Stojanov, Petar, Polak, Paz, Kryukov, Gregory V, Cibulskis, Kristian, Sivachenko, Andrey, Carter, Scott L, Stewart, Chip, Mermel, Craig H, Roberts, Steven A, Kiezun, Adam, Hammerman, Peter S, McKenna, Aaron, Drier, Yotam, Zou, Lihua, Ramos, Alex H, Pugh, Trevor J, Stransky, Nicolas, Helman, Elena, Kim, Jaegil, Sougnez, Carrie, Ambrogio, Lauren, Nickerson, Elizabeth, Shefler, Erica, Cortés, Maria L, Auclair, Daniel, Saksena, Gordon, Voet, Douglas, Noble, Michael, DiCara, Daniel, Lin, Pei, Lichtenstein, Lee, Heiman, David I, Fennell, Timothy, Imielinski, Marcin, Hernandez, Bryan, Hodis, Eran, Baca, Sylvan, Dulak, Austin M, Lohr, Jens, Landau, Dan-Avi, Wu, Catherine J, Melendez-Zajgla, Jorge, Hidalgo-Miranda, Alfredo, Koren, Amnon, McCarroll, Steven A, Mora, Jaume, Crompton, Brian, Onofrio, Robert, Parkin, Melissa, Winckler, Wendy, Ardlie, Kristin, Gabriel, Stacey B, Roberts, Charles W. M, Biegel, Jaclyn A, Stegmaier, Kimberly, Bass, Adam J, Garraway, Levi A, Meyerson, Matthew, Golub, Todd R, Gordenin, Dmitry A, Sunyaev, Shamil, Lander, Eric S, Getz, Gad

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing von Kirby, Andrew, Gnirke, Andreas, Jaffe, David B, Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T, Cabili, Moran N, Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E, Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J, Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C, Xavier, Ramnik J, Pollak, Martin R, Alper, Seth L, Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J, Lander, Eric S, Daly, Mark J

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Mutational heterogeneity in cancer and the search for new cancer genes von Lawrence, Michael S., Stojanov, Petar, Polak, Paz, Kryukov, Gregory V., Cibulskis, Kristian, Sivachenko, Andrey, Carter, Scott L., Stewart, Chip, Mermel, Craig H., Roberts, Steven A., Kiezun, Adam, Hammerman, Peter S., McKenna, Aaron, Drier, Yotam, Zou, Lihua, Ramos, Alex H., Pugh, Trevor J., Stransky, Nicolas, Helman, Elena, Kim, Jaegil, Sougnez, Carrie, Ambrogio, Lauren, Nickerson, Elizabeth, Shefler, Erica, Cortés, Maria L., Auclair, Daniel, Saksena, Gordon, Voet, Douglas, Noble, Michael, DiCara, Daniel, Lin, Pei, Lichtenstein, Lee, Heiman, David I., Fennell, Timothy, Imielinski, Marcin, Hernandez, Bryan, Hodis, Eran, Baca, Sylvan, Dulak, Austin M., Lohr, Jens, Landau, Dan-Avi, Wu, Catherine J., Melendez-Zajgla, Jorge, Hidalgo-Miranda, Alfredo, Koren, Amnon, McCarroll, Steven A., Mora, Jaume, Crompton, Brian, Onofrio, Robert, Parkin, Melissa, Winckler, Wendy, Ardlie, Kristin, Gabriel, Stacey B., Roberts, Charles W. M., Biegel, Jaclyn A., Stegmaier, Kimberly, Bass, Adam J., Garraway, Levi A., Meyerson, Matthew, Golub, Todd R., Gordenin, Dmitry A., Sunyaev, Shamil, Lander, Eric S., Getz, Gad

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Melanoma genome sequencing reveals frequent PREX2 mutations von Berger, Michael F, Hodis, Eran, Heffernan, Timothy P, Deribe, Yonathan Lissanu, Lawrence, Michael S, Protopopov, Alexei, Ivanova, Elena, Watson, Ian R, Nickerson, Elizabeth, Ghosh, Papia, Zhang, Hailei, Zeid, Rhamy, Ren, Xiaojia, Cibulskis, Kristian, Sivachenko, Andrey Y, Wagle, Nikhil, Sucker, Antje, Sougnez, Carrie, Onofrio, Robert, Ambrogio, Lauren, Auclair, Daniel, Fennell, Timothy, Carter, Scott L, Drier, Yotam, Stojanov, Petar, Singer, Meredith A, Voet, Douglas, Jing, Rui, Saksena, Gordon, Barretina, Jordi, Ramos, Alex H, Pugh, Trevor J, Stransky, Nicolas, Parkin, Melissa, Winckler, Wendy, Mahan, Scott, Ardlie, Kristin, Baldwin, Jennifer, Wargo, Jennifer, Schadendorf, Dirk, Meyerson, Matthew, Gabriel, Stacey B, Golub, Todd R, Wagner, Stephan N, Lander, Eric S, Getz, Gad, Chin, Lynda, Garraway, Levi A

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Abstract PL07-01: Molecular profiling of breast cancer in Mexico: Identification of novel therapeutic targets through whole genome sequencing analysis von Banerji, Shantanu, Cibulskis, Kristian, Rangel-Escareño, Claudia, Brown, Kristin K., Carter, Scott L., Frederick, Abbie M., Lawrence, Michael S., Sivachenko, Andrey Y., Sougnez, Carrie, Zou, Lihua, Cortes, Maria L., Fernandez-Lopez, Juan C., Peng, Shouyong, Ardlie, Kristin G., Auclair, Daniel, Bautista-Piña, Veronica, Duke, Fujiko, Francis, Joshua, Jung, Joonil, Maffuz-Aziz, Antonio, Onofrio, Robert C., Parkin, Melissa, Pho, Nam H., Quintanar-Jurado, Valeria, Ramos, Alex H., Rebollar-Vega, Rosa, Rodríguez-Cuevas, Sergio A., Romero-Cordoba, Sandra L., Schumacher, Steven E., Stransky, Nicolas, Thompson, Kristin M., Uribe-Figueroa, Laura, Baselga, Jose, Beroukhim, Rameen, Polyak, Kornelia, Sgroi, Dennis C., Richardson, Andrea L., Jimenez-Sánchez, Gerardo, Lander, Eric S., Gabriel, Stacey B., Garraway, Levi A., Golub, Todd R., Meléndez-Zajgla, Jorge, Toker, Alex, Getz, Gad, Meyerson, Matthew, Hidalgo-Miranda, Alfredo

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Large-Scale Association Analysis Provides Insights into the Genetic Architecture and Pathophysiology of Type 2 Diabetes von Teslovich, Tanya M, Ferreira, Teresa, Segré, Ayellet V, Steinthorsdottir, Valgerdur, Strawbridge, Rona J, Grallert, Harald, Mahajan, Anubha, Kang, Hyun Min, Dina, Christian, Esko, Tonu, Fraser, Ross M, Kumar, Ashish, Lagou, Vasiliki, Luan, Jian’an, Lindgren, Cecilia M, Müller-Nurasyid, Martina, Pechlivanis, Sonali, Raychaudhuri, Soumya, Loos, Ruth J F, Vedantam, Sailaja, Chen, Han, Couper, David J, Li, Man, Cornelis, Marilyn, Kraft, Peter Elias, Chines, Peter S, Fischer, Krista, Jackson, Anne U, Lawrence, Robert, Rehnberg, Emil, Sivapalaratnam, Suthesh, Thorleifsson, Gudmar, Almgren, Peter, Atalay, Mustafa, Charpentier, Guillaume, Doney, Alex S F, Dorkhan, Mozhgan, Eury, Elodie, Gigante, Bruna, Herder, Christian, Hui, Jennie, Jonsson, Anna, Klopp, Norman, Kravic, Jasmina, Krjutškov, Kaarel, Langford, Cordelia, Leander, Karin, Männistö, Satu, Mirza, Ghazala, Mühleisen, Thomas W, Rallidis, Loukianos, Saramies, Jouko, Sigurðsson, Gunnar, Steinbach, Gerald, Thorand, Barbara, Trakalo, Joseph, Wennauer, Roman, Winckler, Wendy, Zabaneh, Delilah, Uitterlinden, Andre G, Hofman, Albert, Sijbrands, Eric, Abecasis, Goncalo R, Owen, Katharine R, Forouhi, Nita G, Syvänen, Ann-Christine, Eriksson, Johan G, Lyssenko, Valeriya, Isomaa, Bo, Hunter, David J, Shuldiner, Alan R, Barroso, Ines, Price, Jackie F, Wilson, James F, Pedersen, Nancy L, Khaw, Kay-Tee, Wareham, Nicholas J, Korpi-Hyövälti, Eeva, Laakso, Markku, Kuusisto, Johanna, Mohlke, Karen L, Bergman, Richard N, Tuomilehto, Jaakko, Boehm, Bernhard O, Gieger, Christian, Hveem, Kristian, Humphries, Steve E, Danesh, John, Salomaa, Veikko, Erbel, Raimund, Jöckel, Karl-Heinz, Peters, Annette, Illig, Thomas, Hattersley, Andrew T, Boerwinkle, Eric, Melander, Olle, Thorsteinsdottir, Unnur, Groop, Leif C, Pankow, James S, Altshuler, David Matthew

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Abstract 3925: Characterization of complex chromosomal aberrations in prostate cancer from whole genome sequencing von Berger, Michael F., Lawrence, Michael S., Demichelis, Francesca, Drier, Yotam, Cibulskis, Kristian, Sivachenko, Andrey Y., Sboner, Andrea, Esgueva, Raquel, Pflueger, Dorothee, Sougnez, Carrie, Onofrio, Robert, Carter, Scott L., Park, Kyung, Habegger, Lukas, Ambrogio, Lauren, Fennell, Timothy, Parkin, Melissa, Saksena, Gordon, Voet, Douglas, Ramos, Alex H., Pugh, Trevor J., Wilkinson, Jane, Fisher, Sheila, Winckler, Wendy, Mahan, Scott, Ardlie, Kristin, Baldwin, Jennifer, Simons, Jonathan W., Kitabayashi, Naoki, MacDonald, Theresa Y., Kantoff, Philip W., Chin, Lynda, Gabriel, Stacey B., Gerstein, Mark B., Golub, Todd R., Meyerson, Matthew, Tewari, Ashutosh, Lander, Eric S., Getz, Gad, Rubin, Mark A., Garraway, Levi A.

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The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits von Voight, Benjamin F, Ding, Jun, Sidore, Carlo, Chines, Peter S, Burtt, Noël P, Fuchsberger, Christian, Li, Yanming, Erdmann, Jeanette, Frayling, Timothy M, Heid, Iris M, Jackson, Anne U, Johnson, Toby, Kilpeläinen, Tuomas O, Lindgren, Cecilia M, Morris, Andrew P, Prokopenko, Inga, Randall, Joshua C, Soranzo, Nicole, Speliotes, Elizabeth K, Teslovich, Tanya M, Wheeler, Eleanor, Maguire, Jared, Potter, Simon, Rayner, N. William, Robertson, Neil, Stirrups, Kathleen, Winckler, Wendy, Sanna, Serena, Mulas, Antonella, Nagaraja, Ramaiah, Cucca, Francesco, Barroso, Inês, Deloukas, Panos, Loos, Ruth J. F, Kathiresan, Sekar, Munroe, Patricia B, Pfeufer, Arne, Samani, Nilesh J, Schunkert, Heribert, McCarthy, Mark I, Abecasis, Gonçalo R, Boehnke, Michael, Kang, Hyun Min, Palmer, Cameron Douglas, Saxena, Richa, Parkin, Melissa, Newton-Cheh, Christopher Holmes, Hirschhorn, Joel Naom, Altshuler, David Matthew

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Genomic sequencing of colorectal adenocarcinomas identifies a recurrent YTI1A-TCF7L2 fusion von BASS, Adam J, LAWRENCE, Michael S, RUI JING, PARKIN, Melissa, PUGH, Trevor, VERHAAK, Roel G, STRANSKY, Nicolas, BOUTIN, Adam T, BARRETINA, Jordi, SOLIT, David B, VAKIANI, Evi, SHAO, Wenlin, BRACE, Lear E, MISHINA, Yuji, WARMUTH, Markus, JIMENEZ, Jose, CHIANG, Derek Y, SIGNORETTI, Sabina, KAELIN, William G, SPARDY, Nicole, HAHN, William C, HOSHIDA, Yujin, OGINO, Shuji, RAMOS, Alex H, DEPINHO, Ronald A, CHIN, Lynda, GARRAWAY, Levi A, FUCHS, Charles S, BASELGA, Jose, TABERNERO, Josep, GABRIEL, Stacey, LANDER, Eric S, GETZ, Gad, MEYERSON, Matthew, DRIER, Yotam, CIBULSKIS, Kristian, SOUGNEZ, Carrie, VOET, Douglas, SAKSENA, Gordon, SIVACHENKO, Andrey

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Abstract 1139: Complete characterization of prostate cancer genomes by massively parallel sequencing von Berger, Michael F., Lawrence, Michael S., Cibulskis, Kristian, Pflueger, Dorothee, Demichelis, Francesca, Sougnez, Carrie, Onofrio, Robert C., Ambrogio, Lauren, Fennell, Timothy, Parkin, Melissa, Carter, Scott L., Saksena, Gordon, Sivachenko, Andrey, Voet, Douglas, Wilkinson, Jane, Fisher, Sheila, Winckler, Wendy, Ardlie, Kristin, Chant, John, Baldwin, Jennifer, Gerstein, Mark, Golub, Todd R., Meyerson, Matthew, Tewari, Ashutosh K., Gabriel, Stacey B., Lander, Eric S., Getz, Gad, Rubin, Mark A., Garraway, Levi A.

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Genome-wide association study of Tourette Syndrome von Scharf, Jeremiah M, Yu, Dongmei, Mathews, Carol A, Neale, Benjamin M, Stewart, S. Evelyn, Fagerness, Jesen A, Evans, Patrick, Gamazon, Eric, Edlund, Christopher K, Service, Susan, Tikhomirov, Anna, Osiecki, Lisa, Illmann, Cornelia, Pluzhnikov, Anna, Konkashbaev, Anuar, Davis, Lea K, Han, Buhm, Crane, Jacquelyn, Moorjani, Priya, Crenshaw, Andrew T, Parkin, Melissa A, Reus, Victor I, Lowe, Thomas L, Rangel-Lugo, Martha, Chouinard, Sylvain, Dion, Yves, Girard, Simon, Cath, Danielle C, Smit, Jan H, King, Robert A, Fernandez, Thomas, Leckman, James F, Kidd, Kenneth K, Kidd, Judith R, Pakstis, Andrew J, State, Matthew, Herrera, Luis Diego, Romero, Roxana, Fournier, Eduardo, Sandor, Paul, Barr, Cathy L, Phan, Nam, Gross-Tsur, Varda, Benarroch, Fortu, Pollak, Yehuda, Budman, Cathy L, Bruun, Ruth D, Erenberg, Gerald, Naarden, Allan L, Lee, Paul C, Weiss, Nicholas, Kremeyer, Barbara, Berrío, Gabriel Bedoya, Campbell, Desmond, Silgado, Julio C. Cardona, Ochoa, William Cornejo, Restrepo, Sandra C. Mesa, Muller, Heike, Duarte, Ana V. Valencia, Lyon, Gholson J, Leppert, Mark, Morgan, Jubel, Weiss, Robert, Grados, Marco A, Anderson, Kelley, Davarya, Sarah, Singer, Harvey, Walkup, John, Jankovic, Joseph, Tischfield, Jay A, Heiman, Gary A, Gilbert, Donald L, Hoekstra, Pieter J, Robertson, Mary M, Kurlan, Roger, Liu, Chunyu, Gibbs, J. Raphael, Singleton, Andrew, Hardy, John, Strengman, Eric, Ophoff, Roel, Wagner, Michael, Moessner, Rainald, Mirel, Daniel B, Posthuma, Danielle, Sabatti, Chiara, Eskin, Eleazar, Conti, David V, Knowles, James A, Ruiz-Linares, Andres, Rouleau, Guy A, Purcell, Shaun, Heutink, Peter, Oostra, Ben A, McMahon, William, Freimer, Nelson, Cox, Nancy J, Pauls, David L

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