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1 |
Material Type: Artigo
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The mutational constraint spectrum quantified from variation in 141,456 humansKarczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel GNature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Livro
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Bioinformatics: a practical guide to the analysis of genes and proteinsBaxevanis, Andreas D ; Ouellette, B. F. FrancisHoboken: Wiley 2001Texto completo disponível |
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Material Type: Artigo
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Genomic basis for RNA alterations in cancerCalabrese, Claudia ; Davidson, Natalie R ; Demircioğlu, Deniz ; Fonseca, Nuno A ; He, Yao ; Kahles, André ; Lehmann, Kjong-Van ; Liu, Fenglin ; Shiraishi, Yuichi ; Soulette, Cameron M ; Urban, Lara ; Greger, Liliana ; Li, Siliang ; Liu, Dongbing ; Perry, Marc D ; Xiang, Qian ; Zhang, Fan ; Zhang, Junjun ; Bailey, Peter ; Erkek, Serap ; Hoadley, Katherine A ; Hou, Yong ; Huska, Matthew R ; Kilpinen, Helena ; Korbel, Jan O ; Marin, Maximillian G ; Markowski, Julia ; Nandi, Tannistha ; Pan-Hammarström, Qiang ; Pedamallu, Chandra Sekhar ; Siebert, Reiner ; Stark, Stefan G ; Su, Hong ; Tan, Patrick ; Waszak, Sebastian M ; Yung, Christina ; Zhu, Shida ; Awadalla, Philip ; Creighton, Chad J ; Meyerson, Matthew ; Ouellette, B F Francis ; Wu, Kui ; Yang, Huanming ; Brazma, Alvis ; Brooks, Angela N ; Göke, Jonathan ; Rätsch, Gunnar ; Schwarz, Roland F ; Stegle, Oliver ; Zhang, ZeminNature (London), 2020-02, Vol.578 (7793), p.129-136 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Transcript expression-aware annotation improves rare variant interpretationCummings, Beryl B ; Karczewski, Konrad J ; Kosmicki, Jack A ; Seaby, Eleanor G ; Watts, Nicholas A ; Singer-Berk, Moriel ; Mudge, Jonathan M ; Karjalainen, Juha ; Satterstrom, F Kyle ; O'Donnell-Luria, Anne H ; Poterba, Timothy ; Seed, Cotton ; Solomonson, Matthew ; Alföldi, Jessica ; Daly, Mark J ; MacArthur, Daniel GNature (London), 2020-05, Vol.581 (7809), p.452-458 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Evaluating drug targets through human loss-of-function genetic variationMinikel, Eric Vallabh ; Karczewski, Konrad J ; Martin, Hilary C ; Cummings, Beryl B ; Whiffin, Nicola ; Rhodes, Daniel ; Alföldi, Jessica ; Trembath, Richard C ; van Heel, David A ; Daly, Mark J ; Schreiber, Stuart L ; MacArthur, Daniel GNature (London), 2020-05, Vol.581 (7809), p.459-464 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genomes from historical Drosophila melanogaster specimens illuminate adaptive and demographic changes across more than 200 years of evolutionShpak, Max ; Ghanavi, Hamid R ; Lange, Jeremy D ; Pool, John E ; Stensmyr, Marcus C Malik, Harmit S.PLoS biology, 2023-10, Vol.21 (10), p.e3002333-e3002333 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
7 |
Material Type: Artigo
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Data on Deafness Discussed by Researchers at Institute of Natural Sciences (Selective Heterozygous Advantage of Carriers of ?.-23+1g a Mutation In Gjb2 Gene Causing Autosomal Recessive Deafness 1a)Obesity, fitness, & wellness week, 2019-08, p.629NewsRX LLCTexto completo disponível |
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Material Type: Artigo
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Molecular Analysis of FRIGIDA, a Major Determinant of Natural Variation in Arabidopsis Flowering TimeJohanson, Urban ; West, Joanne ; Lister, Clare ; Michaels, Scott ; Amasino, Richard ; Dean, CarolineScience (American Association for the Advancement of Science), 2000-10, Vol.290 (5490), p.344-347 [Periódico revisado por pares]Washington, DC: American Society for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Embracing heterogeneity: coalescing the Tree of Life and the future of phylogenomicsBravo, Gustavo A ; Antonelli, Alexandre ; Bacon, Christine D ; Bartoszek, Krzysztof ; Blom, Mozes P K ; Huynh, Stella ; Jones, Graham ; Knowles, L Lacey ; Lamichhaney, Sangeet ; Marcussen, Thomas ; Morlon, Hélène ; Nakhleh, Luay K ; Oxelman, Bengt ; Pfeil, Bernard ; Schliep, Alexander ; Wahlberg, Niklas ; Werneck, Fernanda P ; Wiedenhoeft, John ; Willows-Munro, Sandi ; Edwards, Scott VPeerJ (San Francisco, CA), 2019, Vol.7 (2), p.e6399-e6399, Article e6399 [Periódico revisado por pares]United States: PeerJ. LtdTexto completo disponível |
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Material Type: Artigo
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Yeast "make-accumulate-consume" life strategy evolved as a multi-step process that predates the whole genome duplicationHagman, Arne ; Säll, Torbjörn ; Compagno, Concetta ; Piskur, Jure Fairhead, CecilePloS one, 2013-07, Vol.8 (7), p.e68734-e68734 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |