Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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A structural variation reference for medical and population geneticsCollins, Ryan L ; Brand, Harrison ; Karczewski, Konrad J ; Zhao, Xuefang ; Alföldi, Jessica ; Francioli, Laurent C ; Khera, Amit V ; Lowther, Chelsea ; Gauthier, Laura D ; Wang, Harold ; Watts, Nicholas A ; Solomonson, Matthew ; O'Donnell-Luria, Anne ; Baumann, Alexander ; Munshi, Ruchi ; Walker, Mark ; Whelan, Christopher W ; Huang, Yongqing ; Brookings, Ted ; Sharpe, Ted ; Stone, Matthew R ; Valkanas, Elise ; Fu, Jack ; Tiao, Grace ; Laricchia, Kristen M ; Ruano-Rubio, Valentin ; Stevens, Christine ; Gupta, Namrata ; Cusick, Caroline ; Margolin, Lauren ; Taylor, Kent D ; Lin, Henry J ; Rich, Stephen S ; Post, Wendy S ; Chen, Yii-Der Ida ; Rotter, Jerome I ; Nusbaum, Chad ; Philippakis, Anthony ; Lander, Eric ; Gabriel, Stacey ; Neale, Benjamin M ; Kathiresan, Sekar ; Daly, Mark J ; Banks, Eric ; MacArthur, Daniel G ; Talkowski, Michael ENature (London), 2020-05, Vol.581 (7809), p.444-451 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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2 |
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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3 |
Material Type: Artigo
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Reconstructing Indian population historyReich, David ; Thangaraj, Kumarasamy ; Patterson, Nick ; Price, Alkes L ; Singh, LaljiNature, 2009-09, Vol.461 (7263), p.489-494 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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A map of human genome variation from population-scale sequencingAbecasis, Gonçalo R ; Altshuler, David ; Auton, Adam ; Brooks, Lisa D ; Durbin, Richard M ; Gibbs, Richard A ; Hurles, Matt E ; McVean, Gil ANature (London), 2010-10, Vol.467 (7319), p.1061-1073 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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Robust and scalable inference of population history from hundreds of unphased whole genomesTerhorst, Jonathan ; Kamm, John A ; Song, Yun SNature genetics, 2017-02, Vol.49 (2), p.303-309 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The UK10K project identifies rare variants in health and diseaseWalter, Klaudia ; Min, Josine L ; Huang, Jie ; Crooks, Lucy ; Memari, Yasin ; McCarthy, Shane ; Perry, John R B ; Xu, ChangJiang ; Futema, Marta ; Lawson, Daniel ; Iotchkova, Valentina ; Schiffels, Stephan ; Hendricks, Audrey E ; Danecek, Petr ; Li, Rui ; Floyd, James ; Wain, Louise V ; Barroso, Inês ; Humphries, Steve E ; Hurles, Matthew E ; Zeggini, Eleftheria ; Barrett, Jeffrey C ; Plagnol, Vincent ; Richards, J Brent ; Greenwood, Celia M T ; Timpson, Nicholas J ; Durbin, Richard ; Soranzo, NicoleNature (London), 2015-10, Vol.526 (7571), p.82-90 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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7 |
Material Type: Artigo
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Recombinational landscape and population genomics of Caenorhabditis elegansRockman, Matthew V ; Kruglyak, Leonid Przeworski, MollyPLoS genetics, 2009-03, Vol.5 (3), p.e1000419-e1000419 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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8 |
Material Type: Artigo
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discoveryScott, Eric M ; Halees, Anason ; Itan, Yuval ; Spencer, Emily G ; He, Yupeng ; Azab, Mostafa Abdellateef ; Gabriel, Stacey B ; Belkadi, Aziz ; Boisson, Bertrand ; Abel, Laurent ; Clark, Andrew G ; Alkuraya, Fowzan S ; Casanova, Jean-Laurent ; Gleeson, Joseph GNature genetics, 2016-09, Vol.48 (9), p.1071-1076 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan dataBigham, Abigail ; Bauchet, Marc ; Pinto, Dalila ; Mao, Xianyun ; Akey, Joshua M ; Mei, Rui ; Scherer, Stephen W ; Julian, Colleen G ; Wilson, Megan J ; López Herráez, David ; Brutsaert, Tom ; Parra, Esteban J ; Moore, Lorna G ; Shriver, Mark D Begun, David J.PLoS genetics, 2010-09, Vol.6 (9), p.e1001116-e1001116 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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10 |
Material Type: Artigo
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Sensitive detection of chromosomal segments of distinct ancestry in admixed populationsPrice, Alkes L ; Tandon, Arti ; Patterson, Nick ; Barnes, Kathleen C ; Rafaels, Nicholas ; Ruczinski, Ingo ; Beaty, Terri H ; Mathias, Rasika ; Reich, David ; Myers, Simon Pritchard, Jonathan K.PLoS genetics, 2009-06, Vol.5 (6), p.e1000519-e1000519 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |