Michael J. Montague, Gang Li, Barbara Gandolfi, Razib Khan, Bronwen Aken, S. Searle, Patrick Minx, LaDeana Hillier, Daniel C. Koboldt, Brian W. Davis, Carlos A. Driscoll, Christina S. Barr, Kevin Blackistone, Javier Quilez, Belén Lorente-Galdós, Tomás Marquès‐Bonet, Can Alkan, Gregg W.C. Thomas, Matthew W. Hahn, Marilyn Menotti‐Raymond, Stephen J. O’Brien, Richard K. Wilson, Leslie A. Lyons, William J. Murphy, Wesley C. Warren,
Little is known about the genetic changes that distinguish domestic cat populations from their wild progenitors. Here we describe a high-quality domestic cat reference genome assembly and comparative inferences made with other cat breeds, wildcats, and other mammals. Based upon these comparisons, we identified positively selected genes enriched for genes involved in lipid metabolism that underpin adaptations to a hypercarnivorous diet. We also found positive selection signals within genes underlying ...
Tópico(s): Genetic and phenotypic traits in livestock
2014 - National Academy of Sciences | Proceedings of the National Academy of Sciences
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, Selina Banu, Mashaya Zaman, Stéphanie Efthymiou, Henry Houlden, Irma Järvelä, Leena Lauronen, Tuomo Määttä, Isabelle Schrauwen, Suzanne M. Leal, Claudia Ruivenkamp, Daniela Q.C.M. Barge‐Schaapveld, Cacha Peeters‐Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M. Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Iván K. Chinn, James R. Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xi Lin, Shehla Mohammed, J. Lawrence Merritt, Ghayda Mirzaa, Andrew E. Timms, Joshua Scheck, Mariet W. Elting, Abeltje M. Polstra, Lauren Schenck, Maura Ruzhnikov, Annalisa Vetro, Martino Montomoli, Renzo Guerrini, Daniel C. Koboldt, Theresa Mihalic Mosher, Matthew Pastore, Kim L. McBride, Jing Peng, Pan Zou, Marjolein H. Willemsen, Susanne Koning, Peter D. Turnpenny, Bert B.A. de Vries, Christian Gilissen, Rolph Pfundt, Melissa Lees, Stephen R. Braddock, Kara C. Klemp, Fleur Vansenne, Mariëlle van Gijn, Catherine Quindipan, Matthew A. Deardorff, J. Austin Hamm, Abbey M. Putnam, Rebecca Baud, Laurence E. Walsh, Sally Ann Lynch, Júlia Baptista, Richard Person, Kristin G. Monaghan, Amy Crunk, Jennifer Keller‐Ramey, Adi Reich, Houda Zghal Elloumi, Mariëlle Alders, Jennifer Kerkhof, Haley McConkey, Sadegheh Haghshenas, Reza Maroofian, Bekim Sadiković, Siddharth Banka, Stefan T. Arold, Tahsin Stefan Barakat,
PurposePathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort.MethodsWe perform an in-depth clinical characterization of a cohort of 36 unpublished individuals ...
Tópico(s): Genomic variations and chromosomal abnormalities
2021 - Elsevier BV | Genetics in Medicine
Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma M. Ivancevic, Alison Gardner, Deepti Domingo, Mark Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew A. Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Grønborg, Sandra Mercier, Sébastien Küry, Stéphane Bézieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Désir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A. Koolen, Peter M. VanHasselt, Marjan M. Weiss, Petra Zwijnenburg, Joaquim Sá, C Reis, Carlos López‐Otín, Olaya Santiago‐Fernández, Alberto Fernández‐Jaén, Anita Rauch, Katharina Steindl, Pascal Joset, Amy Goldstein, Suneeta Madan‐Khetarpal, Elena Infante, Elaine H. Zackai, Carey McDougall, Vinodh Narayanan, Keri Ramsey, Saadet Mercimek‐Andrews, Loren D.M. Peña, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Filippo Pinto e Vairo, Pavel N. Pichurin, Sarah Ewing, Sarah Barnett, Eric W. Klee, Matthew Perry, Mary Kay Koenig, Catherine E. Keegan, Jane L. Schuette, Stephanie Asher, Yezmin Perilla‐Young, Laurie D. Smith, Jill A. Rosenfeld, Elizabeth Bhoj, Paige Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E. Lin, Marcie Steeves, Nicolette S. den Hollander, Mariëtte J.V. Hoffer, Margot R.F. Reijnders, Serwet Demirdas, Daniel C. Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E. Hickey, Christine Shieh, Pedro A. Sanchez‐Lara, John M. Graham, Kamer Tezcan, G. Bradley Schaefer, Noelle R. Danylchuk, Alexander Asamoah, Kelly E. Jackson, Naomi Yachelevich, Margaret Au, Luis A. Pérez‐Jurado, Tjitske Kleefstra, Peter Penzes, Stephen A. Wood, Thomas H.J. Burne, Tyler Mark Pierson, Michael Piper, Jozef Gécz, Lachlan A. Jolly, Loren D.M. Peña, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Maria T. Acosta, David R. Adams, Aaron W. Aday, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Deborah Barbouth, Gabriel F. Batzli, Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David Bick, Camille L. Birch, Stephanie Bivona, Carsten Bonnenmann, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Olveen Carrasquillo, Ta Chen Chang, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Surendra Dasari, Mariska Davids, Jean M. Davidson, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Annika M. Dries, Laura Duncan, David J. Eckstein, Lisa Emrick, Christine M. Eng, Gregory M. Enns, Cecilia Esteves, Tyra Estwick, Liliana Fernández, Carlos R. Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Noah D. Friedman, William A. Gahl, Rena A. Godfrey, Alica M. Goldman, David B. Goldstein, Jean‐Philippe F. Gourdine, Alana Grajewski, Catherine Groden, Andrea Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Frances High, Ingrid A. Holm, Jason Hom, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Yong‐hui Jiang, Jean M. Johnston, Angela Jones, Lefkothea Karaviti, Emily G. Kelley, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Susan Korrick, Mary Koziura, Joel B. Krier, Jennifer Kyle, Seema R. Lalani, Byron Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Jozef Lazar, Kimberly LeBlanc, Brendan Lee, Hane Lee, Roy C. Levitt, Shawn Levy, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Ronit Marom, Martín G. Martín, Julián A. Martínez-Agosto, Shruti Marwaha, Thomas May, Jacob L. McCauley, Allyn McConkie‐Rosell, Colleen E. McCormack, Alexa T. McCray, Jason D. Merker, Thomas Metz, Matthew Might, Eva Morava‐Kozicz, Paolo Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, Avi Nath, Stan F. Nelson, J. Scott Newberry, John Henry Newman, Sarah K. Nicholas, Donna Novacic, Devin Oglesbee, James P. Orengo, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Genecee Renteri, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Robb Rowley, Ralph L. Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, Judy Schaechter, Timothy Schedl, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, Kathleen Shields, Jimann Shin, Rebecca Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer,
Elsevier BV
Daniel C. Koboldt, Robert S. Fulton, Michael D. McLellan, Heather K. Schmidt, Joelle Kalicki-Veizer, Joshua F. McMichael, Lucinda Fulton, David J. Dooling, Li Ding, Elaine R. Mardis, Richard K. Wilson, Adrian Ally, Miruna Balasundaram, Yaron S.N. Butterfield, Rebecca Carlsen, Candace Carter, Andy Chu, Eric Chuah, Hye Jung E. Chun, Robin Coope, Noreen Dhalla, Ranabir Guin, Carrie Hirst, Martin Hirst, Robert A. Holt, Darlene Lee, Haiyan I. Li, Michael Mayo, Richard A. Moore, Andrew J. Mungall, Erin Pleasance, A. Gordon Robertson, Jacqueline E. Schein, Arash Shafiei, Payal Sipahimalani, Jared R. Slobodan, Dominik Stoll, Angela Tam, Nina Thiessen, Richard Varhol, Natasja Wye, Thomas Zeng, Yongjun Zhao, İnanç Birol, Steven J.M. Jones, Marco A. Marra, Andrew D. Cherniack, Gordon Saksena, Robert C. Onofrio, Nam Pho, Scott L. Carter, Steven E. Schumacher, Barbara Tabak, Bryan Hernandez, Jeff Gentry, Huy Nguyen, Andrew Crenshaw, Kristin Ardlie, Rameen Beroukhim, Wendy Winckler, Gad Getz, Stacey Gabriel, Matthew Meyerson, Lynda Chin, Raju Kucherlapati, Katherine A. Hoadley, J. Todd Auman, Huihui Fan, Yidi J. Turman, Yan Shi, Ling Li, Michael D. Topal, Xiaping He, Hann Hsiang Chao, Aleix Prat, Grace O. Silva, Michael D. Iglesia, Zhao Wei, Jerry Usary, Jonathan S. Berg, Michael C. C. Adams, Jessica K. Booker, Junyuan Wu, Anisha Gulabani, Tom Bodenheimer, Alan P. Hoyle, Janae V. Simons, Matthew G. Soloway, Lisle E. Mose, Joshua M. Stuart, Saianand Balu, Peter J. Park, D. Neil Hayes, Charles M. Perou, Simeen Malik, Swapna Mahurkar‐Joshi, Hui Shen, Daniel J. Weisenberger, Timothy J. Triche, Phillip H. Lai, Arnoud Boot, Dennis T. Maglinte, Benjamin P. Berman, David Van Den Berg, Stephen B. Baylin, Peter W. Laird, Chad J. Creighton, Lawrence A. Donehower, Michael S. Noble, Doug Voet, Nils Gehlenborg, Daniel Di Cara, Juinhua Zhang, Hailei Zhang, Chang Jiun Wu, Spring Yingchun Liu, Michael S. Lawrence, Lihua Zou, Andrey Sivachenko, Pei Lin, Petar Stojanov, Rui Jing, Juok Cho, Raktim Sinha, Richard W. Park, Marc Danie Nazaire, Jim Robinson, Helga Thorvaldsdóttir, Jill P. Mesirov, Peter J. Park, Sheila M. Reynolds, Richard Kreisberg, Brady Bernard, Ryan Bressler, Timo Erkkilä, Jake Lin, Vésteinn Thórsson, Wei Zhang, Ilya Shmulevich, Giovanni Ciriello, Nils Weinhold, Nikolaus Schultz, Jianjiong Gao, Ethan Cerami, Benjamin Groß, Anders J. Skanderup, Rileen Sinha, Bülent Arman Aksoy, Yevgeniy Antipin, Boris Reva, Ronglai Shen, Barry S. Taylor, Marc Ladanyi, Chris Sander, Pavana Anur, Paul T. Spellman, Yiling Lu, Wenbin Liu, Roel R.G. Verhaak, Gordon B. Mills, Rehan Akbani, Nianxiang Zhang, Bradley M. Broom, Tod D. Casasent, Chris Wakefield, Anna K. Unruh, Keith Baggerly, Kevin R. Coombes, John N. Weinstein, David Haussler, Stephen C. Benz, Joshua M. Stuart, Stephen C. Benz, Jingchun Zhu, Christopher C. T. Szeto, Gary K. Scott, Christina Yau, Evan Paull, Yichao Li, Christopher K. Wong, Artem Sokolov, Janita Thusberg, Sean D. Mooney, Sam Ng, Theodore C. Goldstein, Kyle Ellrott, Mia Grifford, Christopher Wilks, Singer Ma, Brian Craft, Chunhua Yan, Ying Hu, Daoud Meerzaman, Julie M. Gastier-Foster, Jay Bowen, Nilsa C. Ramirez, Aaron D. Black, Robert E. Pyatt, Peter White, Erik Zmuda, Jessica Frick, Tara M. Lichtenberg, Robin Brookens, Myra George, Mark Gerken, Hollie A. Harper, Kristen Leraas, Lisa Wise, Teresa R. Tabler, Cynthia McAllister, Thomas Barr, Melissa Hart-Kothari, Katie Tarvin, Charles Saller, George Sandusky, Colleen M. Mitchell, Mary Iacocca, Jennifer R. Brown, Brenda Rabeno, Christine Czerwinski, Nicholas J. Petrelli, O V Dolzhansky, Mikhail Abramov, О. Л. Воронина, Olga Potapova, Jeffrey R. Marks, Wiktoria Maria Suchorska, Dawid Murawa, Witold Kycler, Matthew Ibbs, Konstanty Korski, Arkadiusz Spychała, P. Murawa, J Brzeziński, Hanna Perz, Radosław Łaźniak, M. Teresiak, Honorata Tatka, Ewa Leporowska, Marta Bogusz-Czerniewicz, Julian Malicki, Andrzej Maćkiewicz, Maciej Wiznerowicz, Xuan Van Le, Bernard Kohl, Nguyen Viet Tien, Richard Thorp, Nguyen Van Bang, Howard Sussman, Bùi Đức Phú, Roman Hájek, Nguyễn Phi Hùng, Huỳnh Quyết Thắng, Khurram Zaki Khan, Robert Penny, David Mallery, Erin Curley, Candace Shelton, Peggy Yena, James N. Ingle, Fergus J. Couch, Wilma L. Lingle, Tari A. King, Ana M. González-Angulo, Mary D. Dyer, Shuying Liu, Xiaolong Meng, Modesto Patangan, Frederic M. Waldman, Hubert Stöppler, W. Kimryn Rathmell, Leigh B. Thorne, Mei Huang, Lori Boice, Ashley Hill, Carl Morrison, Carmelo Gaudioso, Wiam Bshara, Kelly Daily, Sophie Egea, Mark D. Pegram, Carmen Gomez‐Fernandez, Rajiv Dhir, Rohit Bhargava, Adam Brufsky, Craig D. Shriver, Jeffrey A. Hooke, Jamie Campbell, Richard Mural, Hai Hu, Stella Somiari, Caroline Larson, Brenda Deyarmin, Leonid Kvecher, Albert J. Kovatich, Matthew J. Ellis,
We analysed primary breast cancers by genomic DNA copy number arrays, DNA methylation, exome sequencing, messenger RNA arrays, microRNA sequencing and reverse-phase protein arrays. Our ability to integrate information across platforms provided key insights into previously defined gene expression subtypes and demonstrated the existence of four main breast cancer classes when combining data from five platforms, each of which shows significant molecular heterogeneity. Somatic mutations in only three ...
Nature Portfolio
Roger E. McLendon, Allan H. Friedman, D D Bigner, Erwin G. Van Meir, Daniel J. Brat, Gena M. Mastrogianakis, Jeffrey J. Olson, Tom Mikkelsen, Norman L. Lehman, Ken Aldape, W.K. Alfred Yung, Oliver Bögler, John N. Weinstein, Scott Vandenberg, Mitchel S. Berger, Michael D. Prados, Donna M. Muzny, Margaret Morgan, Stephen W. Scherer, Aniko Sabo, Lynn Nazareth, Lora Lewis, Otis Hall, Yiming Zhu, Yanru Ren, Omar Alvi, Jiqiang Yao, Alicia Hawes, Shalini N. Jhangiani, Gerald Fowler, Anthony San Lucas, Christie Kovar, Andrew Cree, Huyen Dinh, Jireh Santibanez, Vandita Joshi, Manuel L. Gonzalez‐Garay, Christopher A. Miller, Aleksandar Milosavljevic, L A Donehower, David A. Wheeler, Richard A. Gibbs, Kristian Cibulskis, Carrie Sougnez, Tim Fennell, Scott Mahan, Jane Wilkinson, Liuda Ziaugra, Robert C. Onofrio, Toby Bloom, Robert Nicol, Kristin Ardlie, Jennifer N. Baldwin, Stacey Gabriel, Eric S. Lander, Jun Li, Robert S. Fulton, Michael D. McLellan, John Wallis, David E. Larson, Xiaoqi Shi, Rachel M. Abbott, Lucinda Fulton, Ken Chen, Daniel C. Koboldt, Michael C. Wendl, Rick Meyer, Yuzhu Tang, Ling Lin, John R. Osborne, Brian H. Dunford-Shore, Tracie L. Miner, Kim D. Delehaunty, Chris Markovic, G.M. Swift, William Courtney, Craig Pohl, Scott Abbott, Amy Hawkins, Shin Leong, Carrie A. Haipek, Heather K. Schmidt, Maddy Wiechert, Tammi L. Vickery, S. P. Scott, David J. Dooling, Asif Chinwalla, George M. Weinstock, Elaine R. Mardis, Richard K. Wilson, Gad Getz, Wendy Winckler, Roel G.W. Verhaak, Michael S. Lawrence, Michael O’Kelly, Jim Robinson, Gabriele Alexe, Rameen Beroukhim, Scott L. Carter, Derek Y. Chiang, Josh Gould, Supriya Gupta, Josh Korn, Craig H. Mermel, Jill P. Mesirov, Stefano Monti, Huy Nguyen, Melissa Parkin, Michael Reich, Nicolas Stransky, Barbara A. Weir, Levi A. Garraway, Todd R. Golub, Matthew Meyerson, Lynda Chin, Alexei Protopopov, Jianhua Zhang, Ilana Perna, Sandy Aronson, Narayanan Sathiamoorthy, Georgia Ren, Jun Yao, W. Ruprecht Wiedemeyer, Hyun Soo Kim, Won Kong Sek, Yonghong Xiao, Isaac S. Kohane, J.G. Seidman, Peter J. Park, Raju Kucherlapati, Peter W. Laird, Leslie Cope, James G. Herman, Daniel J. Weisenberger, Fei Pan, David Van Den Berg, Leander Van Neste, Mi Yi Joo, Kornel E. Schuebel, Stephen B. Baylin, Devin Absher, Jun Z. Li, Audrey Southwick, Shannon D. Brady, Amita Aggarwal, Tisha Chung, Gavin Sherlock, James D. Brooks, Richard M. Myers, Paul T. Spellman, Elizabeth Purdom, Lakshmi R. Jakkula, Anna Lapuk, Henry Marr, Shannon Dorton, Gi Choi Yoon, Ju Han, Amrita Ray, Victoria Wang, Steffen Durinck, Mark D. Robinson, Nicholas J. Wang, Karen Vranizan, Vivian Peng, Eric Van Name, Gerald Fontenay, John Ngai, John G. Conboy, Bahram Parvin, Heidi S. Feiler, Terence P. Speed, Joe W. Gray, Cameron Brennan, Nicholas D. Socci, Adam B. Olshen, Barry S. Taylor, Alex E. Lash, Nikolaus Schultz, Boris Reva, Yevgeniy Antipin, Alexey Stukalov, Benjamin Groß, Ethan Cerami, Qing Wang Wei, Li Qin, Venkatraman Seshan, Liliana Villafania, Magali Cavatore, Laetitia Borsu, Agnès Viale, William L. Gerald, Chris Sander, Marc Ladanyi, Charles M. Perou, D. Neil Hayes, Michael D. Topal, Katherine A. Hoadley, Yuan Qi, S. Balu, Yan Shi, Junyuan Wu, Robert Penny, Michael Bittner, Troy Shelton, Elizabeth Lenkiewicz, Scott Morris, Debbie Beasley, Sheri Sanders, A Kahn, Robert Sfeir, Jessica Chen, David Nassau, Larry Feng, Erin Hickey, Anna D. Barker, Daniela S. Gerhard, Joseph G. Vockley, Carolyn C. Compton, Jim Vaught, Peter L. Fielding, Martin L. Ferguson, Carl G. Schaefer, Jinghui Zhang, Subhashree Madhavan, Kenneth H. Buetow, Francis S. Collins, Peter J. Good, Mark Guyer, Brad Ozenberger, Jane L. Peterson, Elizabeth J. Thomson,
Human cancer cells typically harbour multiple chromosomal aberrations, nucleotide substitutions and epigenetic modifications that drive malignant transformation. The Cancer Genome Atlas (TCGA) pilot project aims to assess the value of large-scale multi-dimensional analysis of these molecular characteristics in human cancer and to provide the data rapidly to the research community. Here we report the interim integrative analysis of DNA copy number, gene expression and DNA methylation aberrations in ...
Tópico(s): Epigenetics and DNA Methylation
2008 - Nature Portfolio | Nature
Kelly A. Frazer, Dennis G. Ballinger, David R. Cox, David A. Hinds, Laura L. Stuvé, Richard A. Gibbs, John W. Belmont, Andrew Boudreau, Paul Hardenbol, Suzanne M. Leal, Shiran Pasternak, David A. Wheeler, T. D. Willis, Fuli Yu, Huanming Yang, Changqing Zeng, Yang Gao, Haoran Hu, Weitao Hu, Chaohua Li, Wei Lin, Siqi Liu, Hao Pan, Xiaoli Tang, Jian Wang, Wei Wang, Jun Yu, Bo Zhang, Qingrun Zhang, Hongbin Zhao, Hui Zhao, Jun Zhou, Stacey Gabriel, Rachel Barry, Brendan Blumenstiel, Amy L. Camargo, Matthew DeFelice, Maura Faggart, Mary Goyette, Supriya Gupta, Jamie Moore, Huy Nguyen, Robert C. Onofrio, Melissa Parkin, Jessica Roy, Erich Stahl, Ellen Winchester, Liuda Ziaugra, David Altshuler, Yan Shen, Zhijian Yao, Wei Huang, Xun Chu, Yungang He, Jin Li, Yangfan Liu, Yayun Shen, Weiwei Sun, Haifeng Wang, Yi Wang, Ying Wang, Xiaoyan Xiong, Liang Xu, Mary Miu Yee Waye, Stephen Kwok‐Wing Tsui, Hong Xue, J. Tze‐Fei Wong, Luana Galver, Jian-Bing Fan, Kevin L. Gunderson, Sarah S. Murray, Arnold Oliphant, Mark S. Chee, Alexandre Montpetit, Fanny Chagnon, Vincent Ferretti, Martin Leboeuf, Jean François Olivier, Michael Phillips, Stéphanie Roumy, Clémentine Sallée, Andrei Verner, Thomas J. Hudson, Pui‐Yan Kwok, Dongmei Cai, Daniel C. Koboldt, Raymond D. Miller, Ludmila Pawlikowska, Patricia Taillon‐Miller, Ming Xiao, Lap Chee Tsui, William Mak, You‐Qiang Song, Paul Kwong Hang Tam, Yusuke Nakamura, Takahisa Kawaguchi, Takuya Kitamoto, Takashi Morizono, Atsushi Nagashima, Yozo Ohnishi, Akihiro Sekine, Toshihiro Tanaka, Tatsuhiko Tsunoda, Panos Deloukas, Christine Bird, Marcos Delgado, Emmanouil T. Dermitzakis, Rhian Gwilliam, Sarah Hunt, Jonathan J. Morrison, Don Powell, Barbara E. Stranger, Pamela Whittaker, David Bentley, Mark J. Daly, Paul I. W. de Bakker, Jeff Barrett, Yves Chrétien, Julian Maller, Steve McCarroll, Hon‐Cheong So, Itsik Pe’er, Alkes L. Price, Shaun Purcell, Daniel J. Richter, Pardis C. Sabeti, Richa Saxena, S. F. Schaffner, Pak C. Sham, Patrick Varilly, Lincoln D. Stein, Lalitha Krishnan, Albert V. Smith, Marcela K. Tello-Ruiz, Guðmundur Á. Þórisson, Aravinda Chakravarti, Peter E. Chen, David J. Cutler, Carl Kashuk, Shin Lin, Gonçalo R. Abecasis, Weihua Guan, Yun Li, Heather M. Munro, Zhaohui Qin, Daryl J. Thomas, Gil McVean, Adam Auton, Leonardo Bottolo, Niall J. Cardin, S. Eyheramendy, Colin Freeman, Jonathan Marchini, Simon Myers, Chris Spencer, Matthew Stephens, Peter Donnelly, Lon R. Cardon, Geraldine M Clarke, David M. Evans, Andrew P. Morris, Bruce S. Weir, Todd A. Johnson, James C. Mullikin, Stephen T. Sherry, Michael Feolo, Andrew D. Skol, Houcan Zhang, Ichiro Matsuda, Yoshimitsu Fukushima, Darryl Macer, Eiko Suda, Charles N. Rotimi, Clement Adebamowo, IkeOluwapo O. Ajayi, Toyin Aniagwu, Patricia A. Marshall, Chibuzor Nkwodimmah, Charmaine Royal, Mark Leppert, Missy Dixon, Andy Peiffer, Renzong Qiu, Alastair Kent, Yoshihiro Kato, Norio Niikawa, Isaac F. Adewole, Bartha Maria Knoppers, Morris W. Foster, Ellen Wright Clayton, Jessica Watkin, Donna M. Muzny, Lynne Nazareth, Erica Sodergren, George M. Weinstock, Imtaz Yakub, Bruce W. Birren, Richard K. Wilson, Lucinda Fulton, Jane Rogers, John H. Burton, Nigel P. Carter, Christopher M. Clee, Mark Griffiths, Matthew Jones, Kirsten McLay, R. W. Plumb, Mark T. Ross, Sarah K. Sims, David L. Willey, Zhu Chen, Hua Han, Le Kang, Martin Godbout, John C. Wallenburg, Paul L'Archevêque, Guy Bellemare, K. Saeki, Hongguang Wang, Daochang An, Hongbo Fu, Qing Li, Zhen Wang, Renwu Wang, Arthur L. Holden, Lisa D. Brooks, Jean E. McEwen, Mark S. Guyer, Vivian Ota Wang, Jane L. Peterson, Michael Shi, Jack Spiegel, Lawrence M. Sung, Lynn F. Zacharia, Francis S. Collins, Karen Kennedy, Ruth Jamieson, John Stewart,
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase ...
Tópico(s): Genetic Mapping and Diversity in Plants and Animals
2007 - Nature Portfolio | Nature
Li Ding, Gad Getz, David A. Wheeler, Elaine R. Mardis, Michael D. McLellan, Kristian Cibulskis, Carrie Sougnez, Heidi Greulich, Donna M. Muzny, Margaret Morgan, Lucinda Fulton, Robert S. Fulton, Qunyuan Zhang, Michael C. Wendl, Michael S. Lawrence, David E. Larson, Ken Chen, David J. Dooling, Aniko Sabo, Alicia Hawes, Hua Shen, Shalini N. Jhangiani, Lora Lewis, Otis Hall, Yiming Zhu, Tittu Mathew, Yanru Ren, Jiqiang Yao, Steven E. Scherer, Kerstin Clerc, Ginger Metcalf, Brian Ng, Aleksandar Milosavljevic, Manuel L. Gonzalez‐Garay, John R. Osborne, Rick Meyer, Xiaoqi Shi, Yuzhu Tang, Daniel C. Koboldt, Ling Lin, Rachel M. Abbott, Tracie L. Miner, Craig Pohl, Ginger Fewell, Carrie A. Haipek, Heather K. Schmidt, Brian H. Dunford-Shore, Aldi T. Kraja, Seth D. Crosby, Christopher S. Sawyer, Tammi L. Vickery, Sacha N Sander, Jody S. Robinson, Wendy Winckler, Jennifer N. Baldwin, Lucian R. Chirieac, Amit Dutt, Tim Fennell, Megan Hanna, Bruce E. Johnson, Robert C. Onofrio, Roman K. Thomas, Giovanni Tonon, Barbara A. Weir, Xiao‐Jun Zhao, Liuda Ziaugra, Michael C. Zody, Thomas J. Giordano, Mark B. Orringer, Jack A. Roth, Margaret R. Spitz, Ignacio I. Wistuba, Bradley A. Ozenberger, Peter J. Good, Andrew C. Chang, David G. Beer, Mark A. Watson, Marc Ladanyi, Stephen Broderick, Akihiko Yoshizawa, William D. Travis, William Pao, Michael A. Province, George M. Weinstock, Harold Varmus, Stacey Gabriel, Eric S. Lander, Richard A. Gibbs, Matthew Meyerson, Richard K. Wilson,
Determining the genetic basis of cancer requires comprehensive analyses of large collections of histopathologically well-classified primary tumours. Here we report the results of a collaborative study to discover somatic mutations in 188 human lung adenocarcinomas. DNA sequencing of 623 genes with known or potential relationships to cancer revealed more than 1,000 somatic mutations across the samples. Our analysis identified 26 genes that are mutated at significantly high frequencies and thus are ...
Tópico(s): RNA modifications and cancer
2008 - Nature Portfolio | Nature
... doi.org/10.2139/ssrn.1014270Dieter Schmidtchen, Christian Koboldt, Jenny Monheim Helstroffer, Birgit E. Will, Georg Haas ...
Tópico(s): Supply Chain Resilience and Risk Management
1979 - University of Chicago Press | The Journal of Law and Economics
... Biotechnol 11: 1093–1096CrossrefCASWeb of Science®Google Scholar Koboldt DC, Steinberg KM, Larson DE, Wilson RK, Mardis ...
Tópico(s): Private Equity and Venture Capital
2014 - Springer Nature | EMBO Reports
Kyle Chang, Chad J. Creighton, Caleb Davis, Lawrence A. Donehower, Jennifer Drummond, David R. Wheeler, Adrian Ally, Miruna Balasundaram, İnanç Birol, Yaron S.N. Butterfield, Andy Chu, Eric Chuah, Hye-Jung E. Chun, Noreen Dhalla, Ranabir Guin, Martin Hirst, Carrie Hirst, Robert A. Holt, Steven J.M. Jones, Darlene Lee, Haiyan I. Li, Marco A. Marra, Michael Mayo, Richard A. Moore, Andrew J. Mungall, A. Gordon Robertson, Jacqueline E. Schein, Payal Sipahimalani, Angela Tam, Nina Thiessen, Richard Varhol, Rameen Beroukhim, Ami S. Bhatt, Angela N. Brooks, Andrew D. Cherniack, Samuel S. Freeman, Stacey Gabriel, Elena Helman, Joonil Jung, Matthew Meyerson, Akinyemi I. Ojesina, Chandra Sekhar Pedamallu, Gordon Saksena, Steven E. Schumacher, Barbara Tabak, Travis Zack, Eric S. Lander, Christopher A. Bristow, Angela Hadjipanayis, Psalm Haseley, Raju Kucherlapati, Semin Lee, Eunjung Lee, Lovelace J. Luquette, Harshad S. Mahadeshwar, Angeliki Pantazi, Michael Parfenov, Peter J. Park, Alexei Protopopov, Xiaojia Ren, Netty Santoso, Jonathan G. Seidman, Sahil Seth, Xingzhi Song, Jiabin Tang, Ruibin Xi, Andrew Wei Xu, Lixing Yang, Dong Zeng, J. Todd Auman, Saianand Balu, Elizabeth Buda, Cheng Fan, Katherine A. Hoadley, Corbin D. Jones, Shaowu Meng, Piotr A. Mieczkowski, Joel S. Parker, Charles M. Perou, Jeffrey Roach, Yan Shi, Grace O. Silva, Donghui Tan, Umadevi Veluvolu, Stephen C. Waring, Matthew D. Wilkerson, Junyuan Wu, Wei Zhao, Tom Bodenheimer, D. Neil Hayes, Alan P. Hoyle, Stuart R Jeffreys, Lisle E. Mose, Janae V. Simons, Mathew G. Soloway, Stephen B. Baylin, Benjamin P. Berman, Arnoud Boot, Ludmila Danilova, James G. Herman, Toshinori Hinoue, Peter W. Laird, Suhn K. Rhie, Hui Shen, Timothy J. Triche, Daniel J. Weisenberger, Scott L. Carter, Kristian Cibulskis, Lynda Chin, Jianhua Zhang, Gad Getz, Carrie Sougnez, Min Wang, Huyen Dinh, HarshaVardhan Doddapaneni, Richard A. Gibbs, Preethi H. Gunaratne, Yi Han, Divya Kalra, Christie Kovar, Lora Lewis, Margaret Morgan, Donna Morton, Donna M. Muzny, Jeffrey G. Reid, Xi Liu, Juok Cho, Daniel DiCara, Scott Frazer, Nils Gehlenborg, David I. Heiman, Jaegil Kim, Michael S. Lawrence, Pei Lin, Yingchun Liu, Michael S. Noble, Petar Stojanov, Doug Voet, Hailei Zhang, Lihua Zou, Chip Stewart, Brady Bernard, Ryan Bressler, Andrea Eakin, Lisa Iype, Theo Knijnenburg, Roger Kramer, Richard Kreisberg, Kalle Leinonen, Jake Lin, Yuexin Liu, Michael Miller, Sheila M. Reynolds, Hector Rovira, Ilya Shmulevich, Vésteinn Thórsson, Yang Da, Wei Zhang, Samirkumar B. Amin, Chang‐Jiun Wu, Chia-Chin Wu, Rehan Akbani, Kenneth Aldape, Keith Baggerly, Bradley M. Broom, Tod D. Casasent, James Cleland, Chad J. Creighton, Deepti Dodda, Mary E. Edgerton, Leng Han, Shelley M. Herbrich, Zhenlin Ju, Hoon Kim, Seth P. Lerner, Jun Li, Han Liang, Wenbin Liu, Philip L. Lorenzi, Yiling Lu, James Melott, Gordon B. Mills, Lam Van Nguyen, Xiaoping Su, Roeland Verhaak, Wenyi Wang, John N. Weinstein, Andrew Wong, Yang Yang, Jun Yao, Rong Yao, Kosuke Yoshihara, Yuan Yuan, Alfred K Yung, Nianxiang Zhang, Siyuan Zheng, Michael Ryan, David W. Kane, Bülent Arman Aksoy, Giovanni Ciriello, Gideon Dresdner, Jianjiong Gao, Benjamin Groß, Anders J. Skanderup, André Kahles, Marc Ladanyi, William Lee, Kjong-Van Lehmann, Martin L. Miller, Ricardo J. Ramirez, Gunnar Rätsch, Boris Reva, Chris Sander, Nikolaus Schultz, Yasin Şenbabaoğlu, Ronglai Shen, Rileen Sinha, S. Onur Sumer, Yichao Sun, Barry S. Taylor, Nils Weinhold, Suzanne S. Fei, Paul T. Spellman, Christopher C. Benz, Yichao Li, Melisssa Cline, Brian Craft, Kyle Ellrott, Mary J. Goldman, David Haussler, Singer Ma, Sam Ng, Evan Paull, Amie Radenbaugh, Sofie Salama, А. В. Соколов, Joshua M. Stuart, Teresa Swatloski, Vladislav Uzunangelov, Peter Waltman, Christina Yau, Jing Zhu, Stanley R. Hamilton, Scott Abbott, Rachel M. Abbott, Nathan D. Dees, Kim D. Delehaunty, Li Ding, David J. Dooling, Jim M Eldred, Catrina C. Fronick, Robert W. Fulton, Lucinda Fulton, Joelle Kalicki-Veizer, Krishna-Latha Kanchi, Cyriac Kandoth, Daniel C. Koboldt, David E. Larson, Timothy J. Ley, Ling Lin, Charles Lu, Vincent Magrini, Elaine R. Mardis, Michael D. McLellan, Joshua F. McMichael, Christopher A. Miller, Michelle D. O’Laughlin, Craig Pohl, Heather K. Schmidt, Scott M. Smith, Jason Walker, John W. Wallis, Michael C. Wendl, Richard K. Wilson, Todd Wylie, Qunyuan Zhang, Robert Burton, Mark A. Jensen, A Kahn, Todd Pihl, David Pot, Yunhu Wan, Douglas A. Levine, Aaron D. Black, Jay Bowen, Jessica Frick, Julie M. Gastier‐Foster, Hollie A. Harper, Carmen Helsel, Kristen Leraas, Tara M. Lichtenberg, Cynthia McAllister, Nilsa C. Ramirez, Samantha Sharpe, Lisa Wise, Erik Zmuda,
Nature Portfolio