Výsledky vyhledávání - "Genetic Variation/*genetics"

GWAS and meta-analysis identifies 49 genetic variants underlying critical Covid-19

Autor: Pairo-Castineira, Erola, Rawlik, Konrad, Bretherick, Andrew D, Qi, Ting, Wu, Yang, Nassiri, Isar, McConkey, Glenn A., Zechner, Marie, Klaric, Lucija, Griffiths, Fiona, Oosthuyzen, Wilna, Kousathanas, Athanasios, Richmond , Anne, Millar, Jonathan, Russell, Clark D, Malinauskas, Tomas, Thwaites, Ryan, Morrice, Kirstie, Keating, Sean, Maslove, David M, Nichol, Alistair D, Semple, Malcolm Gracie, Knight, Julian, Shankar-Hari, Manu, Summers, Charlotte, Hinds , Charles, Horby, Peter, Ling, Lowell, McAuley, Danny F., Montgomery, Hugh, Openshaw, Peter J.M., Begg, Colin, Walsh, Timothy S., Tenesa, Albert, Flores, Carlos, Riancho, Jose A., Rojas-Martinez, Augusto, Lapunzina, Pablo, Yang, Jian, Ponting, Chris P, Wilson, James F, Vitart, Veronique, Abedalthagafi, Malak S, Luchessi, Andre, Parra, Esteban J, Cruz, Raquel, Carracedo, Angel, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Pereira, Alexandre C, Law, Andy, Fairfax, Benjamin P, Clohisey Hendry, Sara, Baillie, J Kenneth

Publikováno v: Pairo-Castineira, E, Rawlik, K, Bretherick, A D, Qi, T, Wu, Y, Nassiri, I, McConkey, G A, Zechner, M, Klaric, L, Griffiths, F, Oosthuyzen, W, Kousathanas, A, Richmond, A, Millar, J, Russell, C D, Malinauskas, T, Thwaites, R, Morrice, K, Keating, S, Maslove, D M, Nichol, A D, Semple, M G, Knight, J, Shankar-Hari, M, Summers, C, Hinds, C, Horby, P, Ling, L, McAuley, D F, Montgomery, H, Openshaw, P J M, Begg, C, Walsh, T S, Tenesa, A, Flores, C, Riancho, J A, Rojas-Martinez, A, Lapunzina, P, Yang, J, Ponting, C P, Wilson, J F, Vitart, V, Abedalthagafi, M S, Luchessi, A, Parra, E J, Cruz, R, Carracedo, A, Fawkes, A, Murphy, L, Rowan, K, Pereira, A C, Law, A, Fairfax, B P, Clohisey Hendry, S & Baillie, J K 2023, ' GWAS and meta-analysis identifies 49 genetic variants underlying critical Covid-19 ', Nature, vol. 617, no. 7962, pp. 764-768 . https://doi.org/10.1038/s41586-023-06034-3

Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown 1 to be highly efficient for discovery of genetic associations 2. Despite the advanced stage of illness at presentation, we have sho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::43b7f0a3242c0f8452c02737c7d09b92
https://www.pure.ed.ac.uk/ws/files/348133266/s41586_023_06034_3.pdf

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Genomic diversity and differentiation between island and mainland populations of white-tailed eagles (Haliaeetus albicilla)

Publikováno v: Hansen, C C R, Láruson, Á J, Rasmussen, J A, Ballesteros, J A C, Sinding, M-H S, Hallgrimsson, G T, von Schmalensee, M, Stefansson, R A, Skarphédinsson, K H, Labansen, A L, Leivits, M, Sonne, C, Dietz, R, Skelmose, K, Boertmann, D, Eulaers, I, Martin, M D, Helgason, A S, Gilbert, M T P & Pálsson, S 2023, ' Genomic diversity and differentiation between island and mainland populations of white-tailed eagles ( Haliaeetus albicilla ) ', Molecular Ecology, vol. 32, no. 8, pp. 1925-1942 . https://doi.org/10.1111/mec.16858
Hansen, C C R, Láruson, Á J, Rasmussen, J A, Ballesteros, J A C, Sinding, M H S, Hallgrimsson, G T, von Schmalensee, M, Stefansson, R A, Skarphédinsson, K H, Labansen, A L, Leivits, M, Sonne, C, Dietz, R, Skelmose, K, Boertmann, D, Eulaers, I, Martin, M D, Helgason, A S, Gilbert, M T P & Pálsson, S 2023, ' Genomic diversity and differentiation between island and mainland populations of white-tailed eagles ( Haliaeetus albicilla ) ', Molecular Ecology, vol. 32, no. 8, pp. 1925-1942 . https://doi.org/10.1111/mec.16858

Divergence in the face of high dispersal capabilities is a documented but poorly understood phenomenon. The white-tailed eagle (Haliaeetus albicilla) has a large geographic dispersal capability and should theoretically be able to maintain genetic hom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46399c516a7aff588235cf68678b1408
https://curis.ku.dk/ws/files/346600761/Genomic_diversity_and_differentiation_between_island_and.pdf

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Genetic diversity fuels gene discovery for tobacco and alcohol use

Autor: Saunders, Gretchen R. B., Wang, Xingyan, Chen, Fang, Jang, Seon-Kyeong, Liu, Mengzhen, Wang, Chen, Gao, Shuang, Jiang, Yu, Khunsriraksakul, Chachrit, Otto, Jacqueline M., Addison, Clifton, Akiyama, Masato, Albert, Christine M., Aliev, Fazil, Alonso, Alvaro, Arnett, Donna K., Ashley-Koch, Allison E., Ashrani, Aneel A., Barnes, Kathleen C., Barr, R. Graham, Bartz, Traci M., Becker, Diane M., Bielak, Lawrence F., Benjamin, Emelia J., Bis, Joshua C., Bjornsdottir, Gyda, Blangero, John, Bleecker, Eugene R., Boardman, Jason D., Boerwinkle, Eric, Boomsma, Dorret, Boorgula, Meher Preethi, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Chasman, Daniel, Chavan, Sameer, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Iona, Cho, Michael H., Choquet, Helene, Cole, John W., Cornelis, Marilyn C., Cucca, Francesco, Curran, Joanne E., de Andrade, Mariza, Dick, Danielle M., Docherty, Anna R., Duggirala, Ravindranath, Eaton, Charles B., Ehringer, Marissa A., Esko, Tonu, Faul, Jessica D., Silva, Lilian Fernandes, Fiorillo, Edoardo, Fornage, Myriam, Freedman, Barry, Gabrielsen, Maiken E., Garrett, Melanie E., Gharib, Sina A., Gieger, Christian, Gillespie, Nathan, Glahn, David C., Gordon, Scott D., Gu, Charles C., Gu, Dongfeng, Gudbjartsson, Daniel F., Guo, Xiuqing, Haessler, Jeffrey, Hall, Michael E., Haller, Toomas, Harris, Kathleen Mullan, He, Jiang, Herd, Pamela, Hewitt, John K., Hickie, Ian, Hidalgo, Bertha, Hokanson, John E., Hopfer, Christian, Hottenga, JoukeJan, Hou, Lifang, Huang, Hongyan, Hung, Yi-Jen, Hunter, David J., Hveem, Kristian, Hwang, Shih-Jen, Hwu, Chii-Min, Iacono, William, Irvin, Marguerite R., Jee, Yon Ho, Johnson, Eric O., Joo, Yoonjung Y., Jorgenson, Eric, Justice, Anne E., Kamatani, Yoichiro, Kaplan, Robert C., Kaprio, Jaakko, Kardia, Sharon L. R., Keller, Matthew C., Kelly, Tanika N., Kooperberg, Charles, Korhonen, Tellervo, Kraft, Peter, Krauter, Kenneth, Kuusisto, Johanna, Laakso, Markku, Lasky-Su, Jessica, Lee, Wen-Jane, Lee, James J., Levy, Daniel, Li, Liming, Li, Kevin, Li, Yuqing, Lin, Kuang, Lind, Penelope A., Liu, Chunyu, Lloyd-Jones, Donald M., Lutz, Sharon M., Ma, Jiantao, Magi, Reedik, Manichaikul, Ani, Martin, Nicholas G., Mathur, Ravi, Matoba, Nana, McArdle, Patrick F., McGue, Matt, McQueen, Matthew B., Medland, Sarah E., Metspalu, Andres, Meyers, Deborah A., Millwood, Iona Y., Mitchell, Braxton D., Mohlke, Karen L., Moll, Matthew, Montasser, May E., Morrison, Alanna C., Mulas, Antonella, Nielsen, Jonas B., North, Kari E., Oelsner, Elizabeth C., Okada, Yukinori, Orru, Valeria, Palmer, Nicholette D., Palviainen, Teemu, Pandit, Anita, Park, S. Lani, Peters, Ulrike, Peters, Annette, Peyser, Patricia A., Polderman, Tinca J. C., Rafaels, Nicholas, Redline, Susan, Reed, Robert M., Reiner, Alex P., Rice, John P., Rich, Stephen S., Richmond, Nicole E., Roan, Carol, Rotter, Jerome, Rueschman, Michael N., Runarsdottir, Valgerdur, Saccone, Nancy L., Schwartz, David A., Shadyab, Aladdin H., Shi, Jingchunzi, Shringarpure, Suyash S., Sicinski, Kamil, Skogholt, Anne Heidi, Smith, Jennifer A., Smith, Nicholas L., Sotoodehnia, Nona, Stallings, Michael C., Stefansson, Hreinn, Stefansson, Kari, Stitzel, Jerry A., Sun, Xiao, Syed, Moin, Tal-Singer, Ruth, Taylor, Amy E., Taylor, Kent D., Telen, Marilyn J., Thai, Khanh K., Tiwari, Hemant, Turman, Constance, Tyrfingsson, Thorarinn, Wall, Tamara L., Walters, Robin G., Weir, David R., Weiss, Scott T., White, Wendy B., Whitfield, John B., Wiggins, Kerri L., Willemsen, Gonneke, Willer, Cristen J., Winsvold, Bendik S., Xu, Huichun, Yanek, Lisa R., Yin, Jie, Young, Kristin L., Young, Kendra A., Yu, Bing, Zhao, Wei, Zhou, Wei, Zollner, Sebastian, Zuccolo, Luisa, Project, The Biobank Japan, Batini, Chiara, Bergen, Andrew W., Bierut, Laura J., David, Sean P., Taliun, Sarah A. Gagliano, Hancock, Dana B., Jiang, Bibo, Munafo, Marcus R., Thorgeirsson, Thorgeir E., Liu, Dajiang J., Vrieze, Scott

Publikováno v: 23andMe Research team & The Biobank Japan Project 2022, ' Genetic diversity fuels gene discovery for tobacco and alcohol use ', Nature, vol. 612, no. 7941, pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4
Nature, 612(7941), 720-724. Nature Publishing Group
Saunders, G R B, Wang, X, Chen, F, Boomsma, D I, Hottenga, J J, Polderman, T J C, Willemsen, G, Thorgeirsson, T E, Liu, D J, Vrieze, S, 23Andme Research Team & The Biobank Japan Project 2022, ' Genetic diversity fuels gene discovery for tobacco and alcohol use ', Nature, vol. 612, no. 7941, pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4
the 23 and Me Research Team 2022, ' Genetic diversity fuels gene discovery for tobacco and alcohol use ', Nature, vol. 612, no. 7941, pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4
Nature 612, 720–724 (2022)

Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1–4. These substances are used across the globe, yet genome-wide association

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dab5dadb7bb73de329904d5d856c385
https://pubmed.ncbi.nlm.nih.gov/36477530

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Autor: Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, L. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty

Publikováno v: Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011

Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05a
http://hdl.handle.net/10044/1/95227

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Akademický článek

Recombinant Viruses and Early Global HIV-1 Epidemic

Autor: Marcia L. Kalish, Kenneth E. Robbins, Danuta Pieniazek, Amanda Schaefer, Nzila Nzilambi, Thomas C. Quinn, Michael E. St. Louis, Ae S. Youngpairoj, Jonathan Phillips, Harold W. Jaffe, Thomas M. Folks

Publikováno v: Emerging Infectious Diseases, Vol 10, Iss 7, Pp 1227-1234 (2004)

Central Africa was the epicenter of the HIV type 1 (HIV-1) pandemic. Understanding the early epidemic in the Democratic Republic of the Congo, formerly Zaire, could provide insight into how HIV evolved and assist vaccine design and intervention effor

Externí odkaz: https://doaj.org/article/970eb13a8530442e9f0a0b9570bfc9a6

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Recent Secondary Contacts, Linked Selection, and Variable Recombination Rates Shape Genomic Diversity in the Model Species Anolis carolinensis

Autor: Stéphane Boissinot, Robert P. Ruggiero, Joseph D. Manthey, Yann Bourgeois

Publikováno v: Genome Biology and Evolution
Bourgeois, Y, Ruggiero, R P, Manthey, J D & Boissinot, S 2019, ' Recent secondary contacts, linked selection, and variable recombination rates shape genomic diversity in the model species Anolis carolinensis ', Genome Biology and Evolution, vol. 11, no. 7, pp. 2009-2022 . https://doi.org/10.1093/gbe/evz110

Gaining a better understanding on how selection and neutral processes affect genomic diversity is essential to gain better insights into the mechanisms driving adaptation and speciation. However, the evolutionary processes affecting variation at a ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8607aa1244cd36c19e477006cec69404
https://doi.org/10.1093/gbe/evz110

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In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity

Autor: François Ancien, Marianne Rooman, Fabrizio Pucci

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 9
International journal of molecular sciences, 22 (9
International Journal of Molecular Sciences, Vol 22, Iss 4516, p 4516 (2021)

Sphingomyelin phosphodiesterase (SMPD1) is a key enzyme in the sphingolipid metabolism. Genetic SMPD1 variants have been related to the Niemann-Pick lysosomal storage disorder, which has different degrees of phenotypic severity ranging from severe sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab8a481e4d700b0183cfdc79db3acda3

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