Results 1 to 10 of about 7,649,767 (328)
Molecular Population Genetics [PDF]
Genetics, 2017 Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide ...Sònia Casillas, A. Barbadillasemanticscholar +3 more sourcesFinnGen provides genetic insights from a well-phenotyped isolated population
Nature, 2023 Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common M. Kurki, J. Karjalainen, P. Palta, Timo P. Sipilä, K. Kristiansson, K. Donner, M. Reeve, H. Laivuori, M. Aavikko, M. Kaunisto, A. Loukola, E. Lahtela, Hannele Mattsson, P. Laiho, Pietro della Briotta Parolo, Arto A Lehisto, M. Kanai, N. Mars, Joel T. Rämö, T. Kiiskinen, H. Heyne, K. Veerapen, S. Rüeger, S. Lemmelä, Wei Zhou, S. Ruotsalainen, K. Pärn, T. Hiekkalinna, Sami Koskelainen, T. Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, H. Siirtola, Kadri Reis, A. Elnahas, B. Sun, Christopher N. Foley, K. Aalto-Setälä, Kaur Alasoo, Mikko Arvas, K. Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, O. Carpén, Chia-Yen Chen, O. A. Dada, Zhihao Ding, M. Ehm, K. Eklund, M. Färkkilä, H. Finucane, A. Ganna, A. Ghazal, R. Graham, Eric M. Green, A. Hakanen, M. Hautalahti, Å. Hedman, M. Hiltunen, R. Hinttala, I. Hovatta, Xinli Hu, A. Huertas-Vazquez, L. Huilaja, J. Hunkapiller, H. Jacob, J. Jensen, H. Joensuu, Sally John, Valtteri Julkunen, M. Jung, J. Junttila, K. Kaarniranta, M. Kähönen, Risto Kajanne, Lila Kallio, R. Kälviäinen, J. Kaprio, N. Kerimov, J. Kettunen, Elina Kilpeläinen, T. Kilpi, Katherine W. Klinger, V. Kosma, T. Kuopio, Venla Kurra, T. Laisk, J. Laukkanen, Nathan Lawless, Aoxing Liu, S. Longerich, R. Mägi, J. Mäkelä, Antti A. Mäkitie, A. Malarstig, A. Mannermaa, Joseph C. Maranville, A. Matakidou, T. Meretoja, S. Mozaffari, Mari E. K. Niemi, Mari E. K. Niemi, T. Niiranen, Christopher J O 'donnell, M. Obeidat, G. Okafo, H. Ollila, A. Palomäki, T. Palotie, J. Partanen, D. Paul, Margit K. Pelkonen, Rion K. Pendergrass, S. Petrovski, A. Pitkäranta, A. Platt, D. Pulford, E. Punkka, P. Pussinen, Neha S. Raghavan, F. Rahimov, D. Rajpal, N. Renaud, B. Riley-Gillis, R. Rodosthenous, Elmo C. Saarentaus, A. Salminen, Eveliina Salminen, V. Salomaa, J. Schleutker, R. Serpi, Huei-yi Shen, R. Siegel, K. Silander, S. Siltanen, S. Soini, H. Soininen, J. Sul, I. Tachmazidou, K. Tasanen, P. Tienari, S. Toppila-Salmi, T. Tukiainen, T. Tuomi, J. Turunen, J. Ulirsch, Felix C. Vaura, P. Virolainen, J. Waring, D. Waterworth, Robert Yang, M. Nelis, A. Reigo, A. Metspalu, L. Milani, T. Esko, Caroline Fox, A. Havulinna, M. Perola, S. Ripatti, A. Jalanko, Tarja Laitinen, T. Mäkelä, R. Plenge, M. McCarthy, H. Runz, M. Daly, A. Palotie +167 moresemanticscholar +1 more sourceAuthor Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications, 2021 A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21077-8.Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur +11 moredoaj +1 more sourceA structural variation reference for medical and population genetics
Nature, 2020 Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome ...Ryan L. Collins, H. Brand, K. Karczewski, Xuefang Zhao, Jessica Alföldi, L. Francioli, A. Khera, Chelsea Lowther, L. Gauthier, Harold Wang, N. Watts, M. Solomonson, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, M. Stone, E. Valkanas, Jack M. Fu, G. Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, C. Stevens, N. Gupta, C. Cusick, L. Margolin, Irina M. Armean, E. Banks, Louis Bergelson, K. Cibulskis, K. Connolly, Miguel Covarrubias, Beryl B. Cummings, M. Daly, S. Donnelly, Y. Farjoun, S. Ferriera, S. Gabriel, Jeff Gentry, Thibault Jeandet, D. Kaplan, Christopher Llanwarne, E. Minikel, B. Neale, Sam Novod, A. O’Donnell-Luria, Nikelle Petrillo, T. Poterba, David Roazen, A. Saltzman, K. Samocha, Molly Schleicher, C. Seed, José Soto, Kathleen M. Tibbetts, C. Tolonen, C. Vittal, Gordon Wade, Arcturus Wang, Qingbo S. Wang, J. Ware, B. Weisburd, N. Whiffin, C. Salinas, Tariq Ahmad, C. Albert, D. Ardissino, G. Atzmon, J. Barnard, L. Beaugerie, E. Benjamin, M. Boehnke, L. Bonnycastle, E. Bottinger, D. Bowden, M. Bown, J. Chambers, J. Chan, D. Chasman, Judy H. Cho, M. Chung, Bruce Cohen, A. Correa, D. Dabelea, D. Darbar, R. Duggirala, J. Dupuis, P. Ellinor, R. Elosúa, J. Erdmann, T. Esko, M. Färkkilä, J. Florez, A. Franke, G. Getz, Benjamin Glaser, S. Glatt, David B. Goldstein, Clicerio Gonzalez, L. Groop, Christopher A. Haiman, Craig Hanis, Matthew Harms, M. Hiltunen, M. Holi, C. Hultman, M. Kallela, J. Kaprio, S. Kathiresan, Bong-Jo Kim, Y. J. Kim, G. Kirov, J. Kooner, S. Koskinen, H. Krumholz, S. Kugathasan, S. Kwak, M. Laakso, T. Lehtimäki, R. Loos, S. Lubitz, Ronald C. W. Ma, D. MacArthur, J. Marrugat, K. Mattila, S. Mccarroll, M. McCarthy, D. McGovern, R. McPherson, J. Meigs, O. Melander, A. Metspalu, P. M. Nilsson, M. O’Donovan, D. Öngür, L. Orozco, M. Owen, C. Palmer, A. Palotie, K. Park, C. Pato, A. Pulver, N. Rahman, A. Remes, J. Rioux, S. Ripatti, D. Roden, D. Saleheen, V. Salomaa, N. Samani, J. Scharf, H. Schunkert, M. B. Shoemaker, P. Sklar, H. Soininen, H. Sokol, T. Spector, P. Sullivan, J. Suvisaari, E. Tai, Y. Teo, Tuomi Tiinamaija, Ming Tsuang, D. Turner, Teresa Tusié-Luna, E. Vartiainen, H. Watkins, R. Weersma, M. Wessman, James G. Wilson, R. Xavier, K. Taylor, Henry J. Lin, S. Rich, W. Post, Y. Chen, J. Rotter, C. Nusbaum, A. Philippakis, E. Lander, M. Talkowski +183 moresemanticscholar +1 more sourceThe population genetics of dN/dS. [PDF]
PLoS Genetics, 2008 Evolutionary pressures on proteins are often quantified by the ratio of substitution rates at non-synonymous and synonymous sites. The dN/dS ratio was originally developed for application to distantly diverged sequences, the differences among which ...Sergey Kryazhimskiy, Joshua B Plotkindoaj +1 more sourceArchetypal Analysis for population genetics.
PLoS Computational Biology, 2022 The estimation of genetic clusters using genomic data has application from genome-wide association studies (GWAS) to demographic history to polygenic risk scores (PRS) and is expected to play an important role in the analyses of increasingly diverse ...Julia Gimbernat-Mayol, Albert Dominguez Mantes, Carlos D Bustamante, Daniel Mas Montserrat, Alexander G Ioannidis +4 moredoaj +1 more source