A deep catalogue of protein-coding variation in 983,578 individuals

A deep catalogue of protein-coding variation in 983,578 individuals

Abstract Rare coding variants that substantially affect function provide insights into the biology of a gene 1–3 . However, ascertaining the frequency of such variants requires large sample sizes 4–8 . Here we present a catalogue of human protein-coding variation, derived from exome sequencing of 98...

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Váldodahkkit: Kathie Sun, Xiaodong Bai, Siying Chen, Suying Bao, Chuanyi Zhang, Manav Kapoor, Joshua Backman, Tyler Joseph, Evan K. Maxwell, George Mitra, Alexander Gorovits, Adam J. Mansfield, Boris Boutkov, Sujit Gokhale, Lukas Habegger, Anthony Marcketta, Adam E. Locke, Liron Ganel, Alicia Hawes, Michael D. Kessler, Deepika Sharma, Jeffrey Staples, Jonas Bovijn, Sahar Gelfman, Alessandro Di Gioia, Veera M. Rajagopal, Alexander Lopez, Jennifer Rico Varela, Jesús Alegre-Díaz, Jaime Berúmen, Roberto Tapia‐Conyer, Pablo Kuri‐Morales, Jason Torres, Jonathan Emberson, Rory Collins, Gonçalo R. Abecasis, Giovanni Coppola, Andrew Deubler, Aris Economides, Adolfo A. Ferrando, Luca A. Lotta, Alan R. Shuldiner, Katherine Siminovitch, Christina Beechert, Erin D. Brian, Laura M. Cremona, Hang Du, Caitlin Forsythe, Zhenhua Gu, Kristy Guevara, Michael Lattari, Kia Manoochehri, Prathyusha Challa, Manasi Pradhan, Raymond Reynoso, Ricardo Schiavo, Maria Sotiropoulos Padilla, Chenggu Wang, Sarah E. Wolf, Amelia Averitt, Nilanjana Banerjee, Dadong Li, Sameer Malhotra, Justin Mower, Mudasar Sarwar, Jeffrey C. Staples, Sean Yu, Aaron Zhang, Andrew Bunyea, Krishna Pawan Punuru, Sanjay Sreeram, Gisu Eom, Benjamin Sultan, Rouel Lanche, Vrushali Mahajan, Eliot Austin, Sean O’Keeffe, Razvan Panea, Tommy Polanco, Ayesha Rasool, Lance Zhang, Evan Edelstein, Ju Guan, Olga Krasheninina, Samantha Zarate, Manuel Allen Revez Ferreira, Kathy Burch, Adrián I. Campos, Lei Chen, Sam Choi, Amy Damask, Sheila M. Gaynor, Benjamin Geraghty, Arkopravo Ghosh, Salvador Romero Martinez, Christopher E. Gillies, Lauren Gurski
Materiálatiipa: Artigo
Giella:eaŋgalasgiella
Almmustuhtton: 2024
Liŋkkat:https://doi.org/10.1038/s41586-024-07556-0
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https://doi.org/10.1038/s41586-024-07556-0

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