Results 1 to 10 of about 6,173,648 (185)

Author 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 more
doaj   +1 more source

Population genetics and the Cretaceous extinction [PDF]

Genetics Selection Evolution, 1987
Tsakas SC, David JR
doaj   +2 more sources

A 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, M. 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 M 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 more
semanticscholar   +1 more source

Information-Geometric Optimization with Natural Selection

Entropy, 2020
Evolutionary algorithms, inspired by natural evolution, aim to optimize difficult objective functions without computing derivatives. Here we detail the relationship between classical population genetics of quantitative traits and evolutionary ...
Jakub Otwinowski, Colin H. LaMont, Armita Nourmohammad   +2 more
doaj   +1 more source

Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions

Scientific Reports, 2022
Non-invasive prenatal testing (NIPT) to detect fetal aneuploidy by sequencing the cell-free DNA (cfDNA) in maternal plasma is being broadly adopted. To detect fetal aneuploidies from maternal plasma, where fetal DNA is mixed with far-larger amounts of ...
Giulio Genovese, Curtis J. Mello, Po-Ru Loh, Robert E. Handsaker, Seva Kashin, Christopher W. Whelan, Lucy A. Bayer-Zwirello, Steven A. McCarroll   +7 more
doaj   +1 more source

Subclonal reconstruction of tumors using machine learning and population genetics

Nature Genetics, 2020
Most cancer genomic data are generated from bulk samples composed of mixtures of cancer subpopulations, as well as normal cells. Subclonal reconstruction methods based on machine learning aim to separate those subpopulations in a sample and infer their ...
G. Caravagna, Timon Heide, Marc J. Williams, L. Zapata, D. Nichol, K. Chkhaidze, W. Cross, George D. Cresswell, B. Werner, A. Acar, L. Chesler, Chris P. Barnes, G. Sanguinetti, T. Graham, A. Sottoriva   +14 more
semanticscholar   +1 more source

Population genetics of the coral Acropora millepora: Toward genomic prediction of bleaching

Science, 2020
Conservation help from genomics Corals worldwide are under threat from rising sea temperatures and pollution. One response to heat stress is coral bleaching—the loss of photosynthetic endosymbionts that provide energy for the coral. Fuller et al. present
Zachary L. Fuller, V. J. Mocellin, Luke A. Morris, N. Cantin, Jihanne Shepherd, Luke A. Sarre, J. Peng, Yi Liao, Joseph K. Pickrell, P. Andolfatto, M. Matz, L. Bay, M. Przeworski   +12 more
semanticscholar   +1 more source

Spatial Population Genetics: It's About Time [PDF]

Annual Review of Ecology, Evolution and Systematics, 2019
Many important questions about the history and dynamics of organisms have a geographical component: How many are there, and where do they live? How do they move and interbreed across the landscape?
Gideon S. Bradburd, Peter L. Ralph
semanticscholar   +1 more source

Archetypal 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 more
doaj   +1 more source

Does Non-Genetic Heterogeneity Facilitate the Development of Genetic Drug Resistance? [PDF]

BioEssays, 43: e2100043 (2021), 2021
Non-genetic forms of antimicrobial drug resistance can result from cell-to-cell variability that is not encoded in the genetic material. Data from recent studies also suggest that non-genetic mechanisms can facilitate the development of genetic drug resistance.
arxiv   +1 more source