Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Genome-wide association studies have successfully discovered thousands of common variants associated with human diseases and traits, but the landscape of rare variations in human disease has not been explored at scale. Exome-sequencing studies of population biobanks provide an opportunity to systema...

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Detalles Bibliográficos
Autores principales: Karczewski, Konrad J., Solomonson, Matthew, Chao, Katherine R., Goodrich, Julia K., Tiao, Grace, Lu, Wenhan, Riley-Gillis, Bridget M., Tsai, Ellen A., Kim, Hye In, Zheng, Xiuwen, Rahimov, Fedik, Esmaeeli, Sahar, Grundstad, A. Jason, Reppell, Mark, Waring, Jeff, Jacob, Howard, Sexton, David, Bronson, Paola G., Chen, Xing, Hu, Xinli, Goldstein, Jacqueline I., King, Daniel, Vittal, Christopher, Poterba, Timothy, Palmer, Duncan S., Churchhouse, Claire, Howrigan, Daniel P., Zhou, Wei, Watts, Nicholas A., Nguyen, Kevin, Nguyen, Huy, Mason, Cara, Farnham, Christopher, Tolonen, Charlotte, Gauthier, Laura D., Gupta, Namrata, MacArthur, Daniel G., Rehm, Heidi L., Seed, Cotton, Philippakis, Anthony A., Daly, Mark J., Davis, J. Wade, Runz, Heiko, Miller, Melissa R., Neale, Benjamin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Resource
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9903662/
https://www.ncbi.nlm.nih.gov/pubmed/36778668
http://dx.doi.org/10.1016/j.xgen.2022.100168

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9903662/
https://www.ncbi.nlm.nih.gov/pubmed/36778668
http://dx.doi.org/10.1016/j.xgen.2022.100168

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