A deep catalog of protein-coding variation in 985,830 individuals

Coding variants that have significant impact on function can provide insights into the biology of a gene but are typically rare in the population. Identifying and ascertaining the frequency of such rare variants requires very large sample sizes. Here, we present the largest catalog of human protein-...

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Detalles Bibliográficos
Autores principales: Sun, Kathie Y., Bai, Xiaodong, Chen, Siying, Bao, Suying, Kapoor, Manav, Zhang, Chuanyi, Backman, Joshua, Joseph, Tyler, Maxwell, Evan, Mitra, George, Gorovits, Alexander, Mansfield, Adam, Boutkov, Boris, Gokhale, Sujit, Habegger, Lukas, Marcketta, Anthony, Locke, Adam, Kessler, Michael D., Sharma, Deepika, Staples, Jeffrey, Bovijn, Jonas, Gelfman, Sahar, Gioia, Alessandro Di, Rajagopal, Veera, Lopez, Alexander, Varela, Jennifer Rico, Alegre, Jesus, Berumen, Jaime, Tapia-Conyer, Roberto, Kuri-Morales, Pablo, Torres, Jason, Emberson, Jonathan, Collins, Rory, Cantor, Michael, Thornton, Timothy, Kang, Hyun Min, Overton, John, Shuldiner, Alan R., Cremona, M. Laura, Nafde, Mona, Baras, Aris, Abecasis, Goncalo, Marchini, Jonathan, Reid, Jeffrey G., Salerno, William, Balasubramanian, Suganthi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197621/
https://www.ncbi.nlm.nih.gov/pubmed/37214792
http://dx.doi.org/10.1101/2023.05.09.539329

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