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A structural variation reference for medical and population genetics
A structural variation reference for medical and population genetics
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A structural variation reference for medical and population genetics

Collins, 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 E

Nature (London), 2020-05, Vol.581 (7809), p.444-451 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Reconstructing Indian population history
Reconstructing Indian population history
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Reconstructing Indian population history

Reich, David ; Thangaraj, Kumarasamy ; Patterson, Nick ; Price, Alkes L ; Singh, Lalji

Nature, 2009-09, Vol.461 (7263), p.489-494 [Periódico revisado por pares]

London: Nature Publishing Group

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3
A map of human genome variation from population-scale sequencing
A map of human genome variation from population-scale sequencing
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A map of human genome variation from population-scale sequencing

Abecasis, Gonçalo R ; Altshuler, David ; Auton, Adam ; Brooks, Lisa D ; Durbin, Richard M ; Gibbs, Richard A ; Hurles, Matt E ; McVean, Gil A

Nature (London), 2010-10, Vol.467 (7319), p.1061-1073 [Periódico revisado por pares]

London: Nature Publishing Group

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4
Insights into human genetic variation and population history from 929 diverse genomes
Insights into human genetic variation and population history from 929 diverse genomes
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Insights into human genetic variation and population history from 929 diverse genomes

Bergström, Anders ; McCarthy, Shane A ; Hui, Ruoyun ; Almarri, Mohamed A ; Ayub, Qasim ; Danecek, Petr ; Chen, Yuan ; Felkel, Sabine ; Hallast, Pille ; Kamm, Jack ; Blanché, Hélène ; Deleuze, Jean-François ; Cann, Howard ; Mallick, Swapan ; Reich, David ; Sandhu, Manjinder S ; Skoglund, Pontus ; Scally, Aylwyn ; Xue, Yali ; Durbin, Richard ; Tyler-Smith, Chris

Science (American Association for the Advancement of Science), 2020-03, Vol.367 (6484) [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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5
Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
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Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

Keinan, Alon ; Clark, Andrew G.

Science (American Association for the Advancement of Science), 2012-05, Vol.336 (6082), p.740-743 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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6
The UK10K project identifies rare variants in health and disease
The UK10K project identifies rare variants in health and disease
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The UK10K project identifies rare variants in health and disease

Walter, 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, Nicole

Nature (London), 2015-10, Vol.526 (7571), p.82-90 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Accuracy of predicting the genetic risk of disease using a genome-wide approach
Accuracy of predicting the genetic risk of disease using a genome-wide approach
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Accuracy of predicting the genetic risk of disease using a genome-wide approach

Daetwyler, Hans D ; Villanueva, Beatriz ; Woolliams, John A Weedon, Michael Nicholas

PloS one, 2008-10, Vol.3 (10), p.e3395-e3395 [Periódico revisado por pares]

United States: Public Library of Science

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8
Population genomics of Bronze Age Eurasia
Population genomics of Bronze Age Eurasia
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Population genomics of Bronze Age Eurasia

Allentoft, Morten E ; Sikora, Martin ; Sjögren, Karl-Göran ; Rasmussen, Simon ; Rasmussen, Morten ; Stenderup, Jesper ; Damgaard, Peter B ; Schroeder, Hannes ; Ahlström, Torbjörn ; Vinner, Lasse ; Malaspinas, Anna-Sapfo ; Margaryan, Ashot ; Higham, Tom ; Chivall, David ; Lynnerup, Niels ; Harvig, Lise ; Baron, Justyna ; Della Casa, Philippe ; Dąbrowski, Paweł ; Duffy, Paul R ; Ebel, Alexander V ; Epimakhov, Andrey ; Frei, Karin ; Furmanek, Mirosław ; Gralak, Tomasz ; Gromov, Andrey ; Gronkiewicz, Stanisław ; Grupe, Gisela ; Hajdu, Tamás ; Jarysz, Radosław ; Khartanovich, Valeri ; Khokhlov, Alexandr ; Kiss, Viktória ; Kolář, Jan ; Kriiska, Aivar ; Lasak, Irena ; Longhi, Cristina ; McGlynn, George ; Merkevicius, Algimantas ; Merkyte, Inga ; Metspalu, Mait ; Mkrtchyan, Ruzan ; Moiseyev, Vyacheslav ; Paja, László ; Pálfi, György ; Pokutta, Dalia ; Pospieszny, Łukasz ; Price, T Douglas ; Saag, Lehti ; Sablin, Mikhail ; Shishlina, Natalia ; Smrčka, Václav ; Soenov, Vasilii I ; Szeverényi, Vajk ; Tóth, Gusztáv ; Trifanova, Synaru V ; Varul, Liivi ; Vicze, Magdolna ; Yepiskoposyan, Levon ; Zhitenev, Vladislav ; Orlando, Ludovic ; Sicheritz-Pontén, Thomas ; Brunak, Søren ; Nielsen, Rasmus ; Kristiansen, Kristian ; Willerslev, Eske

Nature (London), 2015-06, Vol.522 (7555), p.167-172 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Fine-scale recombination rate differences between sexes, populations and individuals
Fine-scale recombination rate differences between sexes, populations and individuals
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Fine-scale recombination rate differences between sexes, populations and individuals

Gudbjartsson, Daniel F ; Gudjonsson, Sigurjon A ; Kristinsson, Kari Th ; Helgason, Agnar ; Gylfason, Arnaldur ; Sigurdsson, Asgeir ; Masson, Gisli ; Stefansson, Kari ; Frigge, Michael L ; Walters, G. Bragi ; Thorsteinsdottir, Unnur ; Thorleifsson, Gudmar ; Kong, Augustine ; Jonasdottir, Aslaug ; Jonasdottir, Adalbjorg

Nature (London), 2010-10, Vol.467 (7319), p.1099-1103 [Periódico revisado por pares]

London: Nature Publishing Group

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10
Inference of human population history from individual whole―genome sequences
Inference of human population history from individual whole―genome sequences
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Inference of human population history from individual whole―genome sequences

HENG LI ; DURBIN, Richard

Nature (London), 2011-07, Vol.475 (7357), p.493-496 [Periódico revisado por pares]

London: Nature Publishing Group

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