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Understanding genetic variants in context [PDF]
eLifeOver the last three decades, human genetics has gone from dissecting high-penetrance Mendelian diseases to discovering the vast and complex genetic etiology of common human diseases.Nasa Sinnott-Armstrong, Stanley Fields, Frederick Roth, Lea M Starita, Cole Trapnell, Judit Villen, Douglas M Fowler, Christine Queitsch +7 moredoaj +4 more sourcesGenetic variants associated with sepsis.
PLoS ONE, 2022 BackgroundThe variable presentations and different phenotypes of sepsis suggest that risk of sepsis comes from many genes each having a small effect. The cumulative effect can be used to create individual risk profile.Milo Engoren, Elizabeth S Jewell, Nicholas Douville, Stephanie Moser, Michael D Maile, Melissa E Bauer +5 moredoaj +4 more sourcesCausal Genetic Variants in Stillbirth.
Obstetric Anesthesia Digest, 2020 BACKGROUND
In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to chromosomal abnormalities.Kate E Stanley, J. Giordano, V. Thorsten, Christie Buchovecky, Amanda L Thomas, M. Ganapathi, Jun Liao, Avinash V Dharmadhikari, Anya Revah-Politi, M. Ernst, N. Lippa, Halie Holmes, G. Povysil, Joseph Hostyk, C. Parker, R. Goldenberg, G. Saade, D. Dudley, H. Pinar, C. Hogue, U. Reddy, R. Silver, V. Aggarwal, A. Allen, R. Wapner, D. Goldstein +25 moresemanticscholar +9 more sourcesGenetic variants in mRNA untranslated regions [PDF]
WIREs RNA, 2018 Genome Wide Association Studies (GWAS) have mapped thousands of genetic variants associated with complex disease risk and regulating quantitative traits, thus exploiting an unprecedented high‐resolution genetic characterization of the human genome. A small fraction (3.7%) of the identified associations is located in untranslated regions (UTRs), and the M. Steri, M. Idda, M. Whalen, V. Orrùsemanticscholar +5 more sourcesA Boolean algebra for genetic variants
Bioinformatics, 2023 AbstractMotivationBeyond identifying genetic variants, we introduce a set of Boolean relations, which allows for a comprehensive classification of the relations of every pair of variants by taking all minimal alignments into account. We present an efficient algorithm to compute these relations, including a novel way of efficiently computing all minimal Jonathan K Vis, Mark A Santcroos, Walter A Kosters, Jeroen F J Laros +3 moreopenaire +6 more sourcesA saturated map of common genetic variants associated with human height
Nature, 2022 Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1.L. Yengo, S. Vedantam, E. Marouli, J. Sidorenko, Eric Bartell, S. Sakaue, M. Graff, A. Eliasen, Yunxuan Jiang, S. Raghavan, J. Miao, J. D. Arias, R. E. Mukamel, Cassandra N. Spracklen, X. Yin, Shyh-Huei Chen, T. Ferreira, JI Yingjie, Tugce Karedera, K. Lüll, Kuang Lin, Deborah E. Malden, C. Medina-Gomez, Moara Machado, Amy Moore, S. Rüeger, T. Ahluwalia, M. Akiyama, M. Allison, Marcus Alvarez, M. K. Andersen, Alireza Ani, V. Appadurai, L. Arbeeva, Seema Bhaskar, L. Bielak, S. Bollepalli, L. Bonnycastle, J. Bork-Jensen, J. Bradfield, Y. Bradford, P. Braund, Jennifer A. Brody, K. Burgdorf, B. Cade, H. Cai, Q. Cai, A. Campbell, M. Cañadas-Garre, E. Catamo, Jin-Fang Chai, Xiaoran Chai, Li Chang, Yipeng Chang, Chien-Hsiun Chen, A. Chesi, S. Choi, R. Chung, M. Cocca, M. P. Concas, C. Couture, G. Cuéllar-Partida, Rebecca D. Danning, E. W. Daw, Frauke Degenhard, G. Delgado, A. Delitala, A. Demirkan, Xuan Deng, P. Devineni, Alexander Dietl, M. Dimitriou, Latchezar Dimitrov, R. Dorajoo, A. Ekici, J. Engmann, Z. Fairhurst-Hunter, Aliki-Eleni Farmaki, J. Faul, J. Fernández-López, L. Forer, Margherita Francescatto, S. Freitag-Wolf, C. Fuchsberger, T. Galesloot, Yan Gao, Zishan Gao, F. Geller, O. Giannakopoulou, Franco Giulianini, A. Gjesing, A. Goel, S. Gordon, Mathias Gorski, S. Graham, J. Grove, Xiuqing Guo, S. Gustafsson, J. Haessler, T. Hansen, A. Havulinna, S. Haworth, Jing He, N. Heard-Costa, Prashantha Hebbar, G. Hindy, Y. Ho, E. Hofer, E. Holliday, K. Horn, W. Hornsby, J. Hottenga, Hongyan Huang, Jie Huang, A. Huerta-Chagoya, J. Huffman, Y. Hung, Shaofeng Huo, M. Y. Hwang, Hiroyuki Iha, Daisuke D Ikeda, M. Isono, A. Jackson, S. Jäger, I. Jansen, I. Johansson, J. Jonas, A. Jonsson, T. Jørgensen, I. Kalafati, M. Kanai, S. Kanoni, L. Kårhus, A. Kasturiratne, T. Katsuya, T. Kawaguchi, R. Kember, K. Kentistou, Han-Na Kim, Y. J. Kim, M. Kleber, M. Knol, A. Kurbasic, M. Lauzon, P. Le, R. Lea, Jong-Young Lee, H. Leonard, Shengchao A Li, Xiaohui Li, Xiaoyin Li, Jin-Zhao Liang, Honghuang Lin, Shih-Yi Lin, Jun Liu, Xueping Liu, K. S. Lo, J. Long, L. Lorés-Motta, J. Luan, V. Lyssenko, L. Lyytikäinen, A. Mahajan, Vasiliki Mamakou, M. Mangino, A. Manichaikul, J. Marten, M. Mattheisen, L. Mavarani, Aaron F. McDaid, K. Meidtner, Tori L. Melendez, J. Mercader, Y. Milaneschi, Jason E. Miller, I. Millwood, Pashupati P. Mishra, R. Mitchell, L. Møllehave, A. Morgan, Soeren Mucha, M. Munz, M. Nakatochi, C. Nelson, M. Nethander, C. Nho, A. A. Nielsen, I. Nolte, Suraj S Nongmaithem, R. Noordam, I. Ntalla, T. Nutile, Anita Pandit, P. Christofidou, Katri Pärna, Marc Pauper, Eva R. B. Petersen, L. Petersen, N. Pitkänen, O. Polašek, A. Poveda, Michael H. Preuss, S. Pyarajan, L. Raffield, H. Rakugi, J. Ramírez, A. Rasheed, Dennis Raven, N. W. Rayner, C. Riveros, Rebecca R. Rohde, D. Ruggiero, S. Ruotsalainen, K. Ryan, M. Sabater-Lleal, R. Saxena, M. Scholz, A. Sendamarai, Botong Shen, Jingchunzi Shi, J. Shin, C. Sidore, X. Sim, C. Sitlani, R. Slieker, R. Smit, A. Smith, Jennifer A. Smith, L. Smyth, L. Southam, V. Steinthorsdottir, Liang Sun, F. Takeuchi, Divya Sri Priyanka Tallapragada, K. Taylor, B. Tayo, C. Tcheandjieu, N. Terzikhan, P. Tesolin, A. Teumer, E. Theusch, Deborah J. Thompson, G. Thorleifsson, P. Timmers, S. Trompet, Constance Turman, S. Vaccargiu, S. W. van der Laan, Peter J. van der Most, J. V. van Klinken, J. van Setten, S. Verma, N. Verweij, Y. Veturi, Carol A. Wang, Chaolong Wang, Lihua Wang, Zhe Wang, H. Warren, Wenjie Wei, A. R. Wickremasinghe, M. Wielscher, K. Wiggins, B. Winsvold, A. Wong, Yang Wu, M. Wuttke, Rui Xia, Tian Xie, Ken Yamamoto, Jingyun Yang, Jie Yao, Hannah Young, N. Yousri, Lei Yu, Lingyao Zeng, Weihua Zhang, Xinyuan Zhang, Jinghua Zhao, Wei Zhao, Wei Zhou, M. Zimmermann, M. Zoledziewska, L. Adair, H. Adams, C. Aguilar-Salinas, F. Al-Mulla, D. Arnett, F. Asselbergs, B. Åsvold, J. Attia, B. Banas, S. Bandinelli, David A. Bennett, T. Bergler, D. Bharadwaj, G. Biino, H. Bisgaard, E. Boerwinkle, C. Böger, K. Bønnelykke, D. Boomsma, A. Børglum, J. Borja, C. Bouchard, D. Bowden, I. Brandslund, B. Brumpton, J. Buring, M. Caulfield, J. Chambers, G. Chandak, S. Chanock, N. Chaturvedi, Y. Chen, Zhengming Chen, Ching-Yu Cheng, I. Christophersen, M. Ciullo, J. Cole, F. Collins, Richard S. Cooper, M. Cruz, F. Cucca, L. Cupples, M. Cutler, S. Damrauer, T. Dantoft, G. Borst, L. D. de Groot, P. D. De Jager, D. D. de Kleijn, H. J. de Silva, G. Dedoussis, A. D. den Hollander, S. Du, D. Easton, P. Elders, A. Eliassen, P. Ellinor, S. Elmståhl, J. Erdmann, M. Evans, D. Fatkin, B. Feenstra, M. Feitosa, L. Ferrucci, I. Ford, M. Fornage, A. Franke, P. Franks, B. Freedman, P. Gasparini, C. Gieger, G. Girotto, M. Goddard, Y. Golightly, C. González‐Villalpando, P. Gordon-Larsen, H. Grallert, S. Grant, N. Grarup, Lyn R. Griffiths, L. Groop, V. Gudnason, C. Haiman, H. Hakonarson, T. Hansen, C. Hartman, A. Hattersley, C. Hayward, S. Heckbert, C. Heng, C. Hengstenberg, A. Hewitt, H. Hishigaki, C. Hoyng, Paul L. Huang, Wei Huang, S. Hunt, K. Hveem, E. Hyppönen, W. Iacono, S. Ichihara, M. A. Ikram, C. Isasi, R. Jackson, M. Jarvelin, Zidan Jin, K. Jöckel, Peter K. Joshi, P. Jousilahti, J. Jukema, M. Kähönen, Y. Kamatani, K. Kang, J. Kaprio, S. Kardia, F. Karpe, N. Kato, F. Kee, T. Kessler, A. Khera, C. Khor, L. Kiemeney, Bong-Jo Kim, EunGyul Kim, Hyung-Lae Kim, P. Kirchhof, M. Kivimaki, W. Koh, H. Koistinen, G. Kolovou, J. Kooner, C. Kooperberg, A. Köttgen, P. Kovacs, A. Kraaijeveld, P. Kraft, R. Krauss, M. Kumari, Z. Kutalik, M. Laakso, L. Lange, C. Langenberg, L. Launer, L. Marchand, Hyejin Lee, N. Lee, T. Lehtimäki, Huaixing Li, Liming Li, W. Lieb, Xu Lin, L. Lind, A. Linneberg, Ching‐Ti Liu, J. Liu, M. Loeffler, B. London, S. Lubitz, Stephen Lye, D. Mackey, R. Mägi, P. Magnusson, G. Marcus, P. M. Vidal, N. G. Martin, W. März, F. Matsuda, R. McGarrah, M. McGue, A. McKnight, S. Medland, D. Mellström, A. Metspalu, B. Mitchell, P. Mitchell, D. Mook-Kanamori, A. Morris, L. Mucci, P. Munroe, M. Nalls, S. Nazarian, A. Nelson, M. Neville, C. Newton‐Cheh, C. Nielsen, M. Nöthen, C. Ohlsson, A. Oldehinkel, L. Orozco, K. Pahkala, P. Pajukanta, C. Palmer, E. Parra, C. Pattaro, O. Pedersen, C. Pennell, B. Penninx, L. Pérusse, A. Peters, P. Peyser, D. Porteous, D. Posthuma, C. Power, P. Pramstaller, M. Province, Q. Qi, J. Qu, D. Rader, O. Raitakari, S. Ralhan, L. Rallidis, D. Rao, S. Redline, Dermot F. Reilly, A. Reiner, S. Rhee, P. Ridker +499 moresemanticscholar +1 more sourceGenetic Variants of SARS-CoV-2-What Do They Mean?
Journal of the American Medical Association (JAMA), 2021 Over the course of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, the clinical, scientific, and public health communities have had to respond to new viral genetic variants. Each one has triggered a flurry of media attention, a A. Lauring, E. Hodcroftsemanticscholar +1 more source
