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Material Type: Artigo
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An integrated map of genetic variation from 1,092 human genomesAbecasis, Goncalo R ; Auton, Adam ; Brooks, Lisa D ; DePristo, Mark A ; Durbin, Richard M ; Handsaker, Robert E ; Kang, Hyun Min ; Marth, Gabor T ; McVean, Gil ANature (London), 2012-11, Vol.491 (7422), p.56-65 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A conditional knockout resource for the genome―wide study of mouse gene functionSKARNES, William C ; ROSEN, Barry ; JACKSON, David ; SEVERIN, Jessica ; BIGGS, Patrick ; JUN FU ; NEFEDOV, Michael ; DE JONG, Pieter J ; STEWART, A. Francis ; BRADLEY, Allan ; WEST, Anthony P ; KOUTSOURAKIS, Manousos ; BUSHELL, Wendy ; IYER, Vivek ; MUJICA, Alejandro O ; THOMAS, Mark ; HARROW, Jennifer ; COX, TonyNature (London), 2011-06, Vol.474 (7351), p.337-342 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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An integrated encyclopedia of DNA elements in the human genomeKundaje, Anshul ; Collins, Patrick J ; Davis, Carrie A ; Khatun, Jainab ; Lajoie, Bryan R ; Landt, Stephen G ; Safi, Alexias ; Altshuler, Robert C ; Cheng, Chao ; Greven, Melissa ; Hoffman, Michael M ; Lassmann, Timo ; Thurman, Robert E ; Wu, Weisheng ; Xi, Hualin S ; Zhuang, Jiali ; Gunter, Chris ; Dekker, Job ; Elnitski, Laura ; Giddings, Morgan C ; Margulies, Elliott H ; Stamatoyannopoulos, John A ; Wold, Barbara ; Kuiper, Heather C ; Dobin, Alex ; Tanzer, Andrea ; Xue, Chenghai ; Zaleski, Chris ; Roder, Maik ; Baer, Michael T ; Bell, Kimberly ; Gordon, Assaf ; Howald, Cedric ; Johnson, Rory ; Kingswood, Colin ; Li, Guoliang ; Luo, Oscar J ; Robyr, Daniel ; Ruan, Xiaoan ; Skancke, Jorgen ; Suzuki, Ana Maria ; Takahashi, Hazuki ; Tilgner, Hagen ; Wang, Huaien ; Hayashizaki, Yoshihide ; Hannon, Gregory J ; Malladi, Venkat S ; Dreszer, Timothy R ; Showers, Kimberly A ; London, Darin ; Zhang, Zhancheng ; Keefe, Damian ; Zheng, Meizhen ; Vielmetter, Jost ; Jain, Preti ; Pusey, Barbara ; Meadows, Sarah K ; Absher, Devin M ; Pennachio, Len A ; Abyzov, Alexej ; Barrell, Daniel ; Bignell, Alexandra ; Diekhans, Mark ; Ezkurdia, Iakes ; Frankish, Adam ; Hunt, Toby ; Jungreis, Irwin ; Loveland, Jane ; Manthravadi, Deepa ; Pei, Baikang ; Snow, Catherine ; Zhang, Zhengdong ; Alexander, Roger P ; Balasubramanian, Suganthi ; Bettinger, Keith ; Cayting, Philip ; Habegger, Lukas ; Lamarre-Vincent, Nathan ; Lindahl-Allen, Marianne ; Monahan, Hannah ; Patacsil, Dorrelyn ; Struhl, Kevin ; Ma, Lijia ; Inoue, Daigo ; Kellner, Tanja ; Kirchmaier, Stephan ; Bates, Daniel L ; Canfield, Theresa K ; Boatman, Lisa ; Neph, Shane J ; Roach, Vaughn ; Sanchez, Minerva E ; Shafer, Anthony O ; Vernot, Benjamin ; Weaver, Molly A ; Akey, Joshua M ; Bender, Michael ; Navas, Patrick ; Hussami, Nadine ; Schaub, Marc ANature (London), 2012-09, Vol.489 (7414), p.57-74 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genome-wide association studies of 14 agronomic traits in rice landracesHan, Bin ; Huang, Xuehui ; Wei, Xinghua ; Sang, Tao ; Zhao, Qiang ; Feng, Qi ; Zhao, Yan ; Li, Canyang ; Zhu, Chuanrang ; Lu, Tingting ; Zhang, Zhiwu ; Li, Meng ; Fan, Danlin ; Guo, Yunli ; Wang, Ahong ; Wang, Lu ; Deng, Liuwei ; Li, Wenjun ; Lu, Yiqi ; Weng, Qijun ; Liu, Kunyan ; Huang, Tao ; Zhou, Taoying ; Jing, Yufeng ; Li, Wei ; Lin, Zhang ; Buckler, Edward S ; Qian, Qian ; Zhang, Qi-Fa ; Li, JiayangNature genetics, 2010-11, Vol.42 (11), p.961-967 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Patterns and rates of exonic de novo mutations in autism spectrum disordersNEALE, Benjamin M ; YAN KOU ; POLAK, Paz ; YOON, Seungtai ; MAGUIRE, Jared ; CRAWFORD, Emily L ; CAMPBELL, Nicholas G ; GEHER, Evan T ; VALLADARES, Otto ; SCHAFER, Chad ; LIUL, Han ; TUO ZHAO ; LI LIU ; GUIQING CAI ; LIHM, Jayon ; DANNENFELSER, Ruth ; JABADO, Omar ; PERALTA, Zuleyma ; NAGASWAMY, Uma ; MUZNY, Donna ; REID, Jeffrey G ; NEWSHAM, Irene ; YUANQING WU ; MA'AYAN, Avi ; LEWIS, Lora ; YI HAN ; VOIGHT, Benjamin F ; LIM, Elaine ; ROSSIN, Elizabeth ; KIRBY, Andrew ; FLANNICK, Jason ; FROMER, Menachem ; SHAKIR, Khalid ; FENNELL, Tim ; SAMOCHA, Kaitlin E ; GARIMELLA, Kiran ; BANKS, Eric ; POPLIN, Ryan ; GABRIEL, Stacey ; DEPRISTO, Mark ; WIMBISH, Jack R ; BOONE, Braden E ; LEVY, Shawn E ; BETANCUR, Catalina ; SUNYAEV, Shamil ; SABO, Aniko ; BOERWINKLE, Eric ; BUXBAUM, Joseph D ; COOK, Edwin H ; DEVLIN, Bernie ; GIBBS, Richard A ; ROEDER, Kathryn ; SCHELLENBERG, Gerard D ; SUTCLIFFE, James S ; DALY, Mark J ; LIN, Chiao-Feng ; STEVENS, Christine ; WANG, Li-San ; MAKAROV, VladimirNature (London), 2012-05, Vol.485 (7397), p.242-245 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritisEYRE, Steve ; BOWES, John ; AMOS, Christopher I ; PADYUKOV, Leonid ; TOES, Rene E. M ; HUIZINGA, Tom W. J ; WIJMENGA, Cisca ; TRYNKA, Gosia ; FRANKE, Lude ; WESTRA, Harm-Jan ; ALFREDSSON, Lars ; XINLI HU ; DIOGO, Dorothée ; SANDOR, Cynthia ; DE BAKKER, Paul I. W ; DAVILA, Sonia ; CHIEA CHUEN KHOR ; KHAI KOON HENG ; ANDREWS, Robert ; EDKINS, Sarah ; HUNT, Sarah E ; LANGFORD, Cordelia ; SYMMONS, Deborah ; LEE, Annette ; CONCANNON, Pat ; ONENGUT-GUMUSCU, Suna ; RICH, Stephen S ; DELOUKAS, Panos ; GONZALEZ-GAY, Miguela ; RODRIGUEZ-RODRIGUEZ, Luis ; ARLSETIG, Lisbeth ; MARTIN, Javier ; RANTAPÄÄ-DAHLQVIST, Solbritt ; PLENGE, Robert M ; BARTON, Anne ; RAYCHAUDHURI, Soumya ; KLARESKOG, Lars ; GREGERSEN, Peter K ; WORTHINGTON, Jane ; MARTIN, Paul ; ZHERNAKOVA, Alexandra ; STAHL, Eli ; VIATTE, Sebastien ; MCALLISTER, KateNature genetics, 2012-12, Vol.44 (12), p.1336-1340 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastomaDISKIN, Sharon J ; CAPASSO, Mario ; JAGANNATHAN, Jayanti ; LATORRE, Valeria ; IOLASCON, Achille ; HAKONARSON, Hakon ; DEVOTO, Marcella ; MARIS, John M ; SCHNEPP, Robert W ; COLE, Kristina A ; ATTIYEH, Edward F ; CUIPING HOU ; DIAMOND, Maura ; CARPENTER, Erica L ; WINTER, Cynthia ; LEE, HannaNature genetics, 2012-10, Vol.44 (10), p.1126-1130 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A high-resolution map of human evolutionary constraint using 29 mammalsKERSTIN, Lindblad- Toh ; GARBER, Manuel ; WARD, Lucas D ; LOWE, Craig B ; HOLLOWAY, Alisha K ; CLAMP, Michele ; GNERRE, Sante ; ALFÖLDI, Jessica ; BEAL, Kathryn ; JEAN CHANG ; CLAWSON, Hiram ; CUFF, James ; ZUK, Or ; PALMA, Federica Di ; FITZGERALD, Stephen ; FLICEK, Paul ; GUTTMAN, Mitchell ; HUBISZ, Melissa J ; JAFFE, David B ; JUNGREIS, Irwin ; JAMES KENT, W ; KOSTKA, Dennis ; LARA, Marcia ; LIN, Michael F ; MARTINS, Andre L ; MASSINGHAM, Tim ; MOLTKE, Ida ; RANEY, Brian J ; RASMUSSEN, Matthew D ; ROBINSON, Jim ; STARK, Alexander ; VILELLA, Albert J ; JIAYU WEN ; XIAOHUI XIE ; PARKER, Brian J ; ZODY, Michael C ; WORLEY, Kim C ; KOVAR, Christie L ; MUZNY, Donna M ; GIBBS, Richard A ; WARREN, Wesley C ; MARDIS, Elaine R ; WEINSTOCK, George M ; WILSON, Richard K ; BIRNEY, Ewan ; WASHIETL, Stefan ; MARGULIES, Elliott H ; HERRERO, Javier ; GREEN, Eric D ; HAUSSLER, David ; SIEPEL, Adam ; GOLDMAN, Nick ; POLLARD, Katherine S ; PEDERSEN, Jakob S ; LANDER, Eric S ; KELLIS, Manolis ; KHERADPOUR, Pouya ; ERNST, Jason ; JORDAN, Gregory ; MAUCELI, EvanNature (London), 2011-10, Vol.478 (7370), p.476-482 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locusJACQUEMONT, Sébastien ; REYMOND, Alexandre ; THORLEIFSSON, Gudmar ; BELFIORE, Marco ; BOUQUILLON, Sonia ; CAMPION, Dominique ; DE LEEUW, Nicole ; DE VRIES, Bert B. A ; ESKO, Tõnu ; FERNANDEZ, Bridget A ; FERNANDEZ-ARANDA, Fernando ; FERNANDEZ-REAL, José Manuel ; ZUFFEREY, Flore ; GRATACOS, Mònica ; GUILMATRE, Audrey ; HOYER, Juliane ; JARVELIN, Marjo-Riitta ; FRANK KOOY, R ; KURG, Ants ; LE CAIGNEC, Cédric ; MÄNNIK, Katrin ; PLATT, Orah S ; SANLAVILLE, Damien ; HAREWOOD, Louise ; VAN HAELST, Mieke M ; VILLATORO GOMEZ, Sergi ; WALHA, Faida ; WU, Bai-Lin ; YU, Yongguo ; ABOURA, Azzedine ; ADDOR, Marie-Claude ; ALEMBIK, Yves ; ANTONARAKIS, Stylianos E ; ARVEILER, Benoît ; WALTERS, Robin G ; BARTH, Magalie ; BEDNAREK, Nathalie ; BENA, Frédérique ; BERGMANN, Sven ; BERI, Mylène ; BERNARDINI, Laura ; BLAUMEISER, Bettina ; BONNEAU, Dominique ; BOTTANI, Armand ; BOUTE, Odile ; KUTALIK, Zoltán ; BRUNNER, Han G ; CAILLEY, Dorothee ; CALLIER, Patrick ; CHIESA, Jean ; CHRAST, Jacqueline ; COIN, Lachlan ; COUTTON, Charles ; CUISSET, Jean-Marie ; CUVELLIER, Jean-Christophe ; DAVID, Albert ; MARTINET, Danielle ; YIPING SHEN ; VALSESIA, Armand ; BECKMANN, Noam DNature (London), 2011-10, Vol.478 (7367), p.97-102 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutationsO' ROAK, Brian J ; VIVES, Laura ; TURNER, Emily H ; STANAWAY, Ian B ; VERNOT, Benjamin ; MALIG, Maika ; BAKER, Carl ; REFFLY, Beau ; AKEY, Joshua M ; BORENSTEIN, Elhanan ; RIEDER, Mark J ; NICKERSON, Deborah A ; GIRIRAJAN, Santhosh ; BERNIER, Raphael ; SHENDURE, Jay ; EICHLER, Evan E ; KARAKOC, Emre ; KRUMM, Niklas ; COE, Bradley P ; LEVY, Roie ; KO, Arthur ; LEE, Choli ; SMITHY, Joshua DNature (London), 2012-05, Vol.485 (7397), p.246-250 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |