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Material Type: Artigo
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Pan-genomics in the human genome eraSherman, Rachel M ; Salzberg, Steven LNature reviews. Genetics, 2020-04, Vol.21 (4), p.243-254 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The Human Genome Project changed everythingGibbs, Richard ANature reviews. Genetics, 2020-10, Vol.21 (10), p.575-576 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architectureChia, Ruth ; Sabir, Marya S ; Saez-Atienzar, Sara ; Gustavsson, Emil ; Walton, Ronald L ; Ahmed, Sarah ; Makarious, Mary B ; Diez-Fairen, Monica ; Portley, Makayla K ; Shah, Zalak ; Hernandez, Dena G ; Blauwendraat, Cornelis ; Stone, David J ; Eicher, John ; Parkkinen, Laura ; Ansorge, Olaf ; Honig, Lawrence S ; Marder, Karen ; Lemstra, Afina ; Londos, Elisabet ; Morgan, Kevin ; Warner, Thomas T ; Jaunmuktane, Zane ; Galasko, Douglas ; Tienari, Pentti J ; Oinas, Minna ; Morris, John C ; Halliday, Glenda M ; Van Deerlin, Vivianna M ; Trojanowski, John Q ; Calvo, Andrea ; Canosa, Antonio ; Floris, Gianluca ; Bohannan, Ryan C ; Gan-Or, Ziv ; Geiger, Joshua T ; Krüger, Rejko ; Lopez, Grisel ; Sidransky, Ellen ; Norcliffe-Kaufmann, Lucy ; Kaufmann, Horacio ; Shakkottai, Vikram G ; Perkins, Matthew ; Newell, Kathy L ; Gasser, Thomas ; Schulte, Claudia ; Landi, Francesco ; Cusi, Daniele ; Monuki, Edwin S ; Brunetti, Maura ; Dawson, Ted M ; Rosenthal, Liana S ; Pletnikova, Olga ; Flanagan, Margaret E ; Rodríguez-Rodríguez, Eloy ; Infante, Jon ; Lage, Carmen ; Black, Sandra E ; Masellis, Mario ; Rogaeva, Ekaterina ; Duyckaerts, Charles ; Brice, Alexis ; Tilley, Bension S ; Gentleman, Steve ; Logroscino, Giancarlo ; Serrano, Geidy E ; Beach, Thomas G ; McKeith, Ian G ; Morris, Christopher M ; Al-Sarraj, Safa ; Hodges, Angela K ; Aarsland, Dag ; Klein, Gregory ; Kaiser, Scott M ; Woltjer, Randy ; Bekris, Lynn M ; Leverenz, James B ; Besser, Lilah M ; Kuzma, Amanda ; Morris, Huw R ; Albani, Diego ; Pickering-Brown, Stuart ; Faber, Kelley ; Morenas-Rodriguez, Estrella ; Fortea, Juan ; Alcolea, Daniel ; Nalls, Mike A ; Ferrucci, Luigi ; Resnick, Susan M ; Foroud, Tatiana M ; Graff-Radford, Neill R ; Ferman, Tanis ; Hardy, John A ; Torkamani, Ali ; Ryten, Mina ; Chiò, Adriano ; Ross, Owen A ; Gibbs, J Raphael ; Dalgard, Clifton L ; Traynor, Bryan JNature genetics, 2021-03, Vol.53 (3), p.294-303 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variantsPedersen, Oluf ; Nielsen, Rasmus ; Wang, Jun ; Li, Yingrui ; Vinckenbosch, Nicolas ; Tian, Geng ; Huerta-Sanchez, Emilia ; Jiang, Tao ; Jiang, Hui ; Albrechtsen, Anders ; Andersen, Gitte ; Cao, Hongzhi ; Korneliussen, Thorfinn ; Grarup, Niels ; Guo, Yiran ; Hellman, Ines ; Jin, Xin ; Li, Qibin ; Liu, Jiangtao ; Liu, Xiao ; Sparsø, Thomas ; Tang, Meifang ; Wu, Honglong ; Wu, Renhua ; Yu, Chang ; Zheng, Hancheng ; Astrup, Arne ; Bolund, Lars ; Holmkvist, Johan ; Jørgensen, Torben ; Kristiansen, Karsten ; Schmitz, Ole ; Schwartz, Thue W ; Zhang, Xiuqing ; Li, Ruiqiang ; Yang, Huanming ; Wang, Jian ; Hansen, TorbenNature genetics, 2010-11, Vol.42 (11), p.969-972 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The trans-ancestral genomic architecture of glycemic traitsCorbin, Laura J ; Chan, Kei Hang Katie ; Chu, Audrey Y ; Louie, Tin ; März, Winfried ; Moreno-Macias, Hortensia ; Ndungu, Anne ; Nelson, Sarah C ; Nolte, Ilja M ; North, Kari E ; Wang, Yujie ; Brody, Jennifer A ; Burtt, Noël P ; Cabrera, Claudia P ; Chang, Li-Ching ; Chiu, Yen-Feng ; Duan, Qing ; Fatumo, Segun A ; Gayán, Javier ; Giulianini, Franco ; Hai, Yang ; Heianza, Yoriko ; Hwang, Mi Yeong ; Kooner, Ishminder K ; Loh, Marie ; Long, Jirong ; Montasser, May E ; Rich, Stephen S ; Saxena, Richa ; Setoh, Kazuya ; Smith, Albert V ; Takeuchi, Fumihiko ; Vogel, Mandy ; Warren, Helen R ; Wen, Wanqing ; Wilsgaard, Tom ; Zafarmand, Mohammad Hadi ; Baldassarre, Damiano ; Bornstein, Stefan R ; Chang, Yi Cheng ; Du, Shufa ; Fuchsberger, Christian ; Hsueh, Willa A ; Igase, Michiya ; Katsuya, Tomohiro ; Khor, Chiea Chuen ; Kuulasmaa, Teemu ; Kuusisto, Johanna ; Li, Honglan ; Lindström, Jaana ; Lorenzo, Carlos ; Nelis, Mari ; Qi, Qibin ; Raven, Dennis ; Reilly, Dermot F ; Reiner, Alex ; Rudan, Igor ; van Hylckama Vlieg, Astrid ; Vangipurapu, Jagadish ; Willems van Dijk, Ko ; Alarcón-Riquelme, Marta E ; An, Ping ; Aviles-Santa, Larissa ; Boerwinkle, Eric ; Böhm, Bernhard O ; Bønnelykke, Klaus ; Canouil, Mickaël ; Chambers, John C ; Chen, Yii-Der Ida ; Correa, Adolfo ; Cucca, Francesco ; Dedoussis, George ; Elmståhl, Sölve ; Franks, Paul W ; Goodarzi, Mark O ; Jarvelin, Marjo-Ritta ; Kaplan, Robert ; Keinanen-Kiukaanniemi, Sirkka M ; Kim, Bong-Jo ; Koistinen, Heikki A ; Kooner, Jaspal S ; Kumari, Meena ; Lakka, Timo A ; Palmer, Nicholette D ; Redline, Susan ; Rosendaal, Frits R ; Sandhu, Manjinder ; Scott, Laura J ; Small, Kerrin S ; Stumvoll, Michael ; Tabara, Yasuharu ; Tönjes, Anke ; Wareham, Nick J ; Zeggini, Eleftheria ; Zheng, Wei ; McCarthy, Mark I ; Meigs, James B ; Liu, Ching-Ti ; Mohlke, Karen L ; Wheeler, EleanorNature genetics, 2021-06, Vol.53 (6), p.840-860 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Inferring human population size and separation history from multiple genome sequencesSchiffels, Stephan ; Durbin, RichardNature genetics, 2014-08, Vol.46 (8), p.919-925 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Comprehensive molecular characterization of mitochondrial genomes in human cancersYuan, Yuan ; Ju, Young Seok ; Kim, Youngwook ; Li, Jun ; Wang, Yumeng ; Yoon, Christopher J ; Yang, Yang ; Martincorena, Inigo ; Creighton, Chad J ; Weinstein, John N ; Xu, Yanxun ; Han, Leng ; Kim, Hyung-Lae ; Nakagawa, Hidewaki ; Park, Keunchil ; Campbell, Peter J ; Liang, HanNature genetics, 2020-03, Vol.52 (3), p.342-352 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencingCortés-Ciriano, Isidro ; Lee, Jake June-Koo ; Xi, Ruibin ; Jain, Dhawal ; Jung, Youngsook L ; Yang, Lixing ; Gordenin, Dmitry ; Klimczak, Leszek J ; Zhang, Cheng-Zhong ; Pellman, David S ; Park, Peter JNature genetics, 2020-03, Vol.52 (3), p.331-341 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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HGVS Recommendations for the Description of Sequence Variants: 2016 Updateden Dunnen, Johan T. ; Dalgleish, Raymond ; Maglott, Donna R. ; Hart, Reece K. ; Greenblatt, Marc S. ; McGowan-Jordan, Jean ; Roux, Anne-Francoise ; Smith, Timothy ; Antonarakis, Stylianos E. ; Taschner, Peter E.M.Human mutation, 2016-06, Vol.37 (6), p.564-569 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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What is a gene, post-ENCODE? History and updated definitionGerstein, Mark B ; Bruce, Can ; Rozowsky, Joel S ; Zheng, Deyou ; Du, Jiang ; Korbel, Jan O ; Emanuelsson, Olof ; Zhang, Zhengdong D ; Weissman, Sherman ; Snyder, MichaelGenome research, 2007-06, Vol.17 (6), p.669-681 [Periódico revisado por pares]United StatesTexto completo disponível |