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Understanding genetic variants in context by Nasa Sinnott-Armstrong, Stanley Fields, Frederick Roth, Lea M Starita, Cole Trapnell, Judit Villen, Douglas M Fowler, Christine Queitsch
Published 2024-12-01Get full text
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Guidelines for releasing a variant effect predictor by Benjamin J. Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Kresten Lindorff-Larsen, David M. McCandlish, Rose Orenbuch, Courtney A. Shearer, Lara Muffley, Julia Foreman, Andrew M. Glazer, Ben Lehner, Debora S. Marks, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Joseph A. Marsh
Published 2025-04-01Get full text
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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations by Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Karynne Patterson, Eric Venner, Lara A. Muffley, Douglas M. Fowler, Alan F. Rubin, Jennifer E. Posey, Sharon E. Plon, James R. Lupski, Richard A. Gibbs, Lea M. Starita, Carla Daniela Robles-Espinoza, Willow Coyote-Maestas, Irene Gallego Romero
Published 2024-12-01Get full text
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CFAP47 is Implicated in X-Linked Polycystic Kidney Disease by Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki, Motoko Chiga, Akinari Sekine, Yoshifumi Ubara, Danny E. Miller, Miranda P.G. Zalusky, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Hiroaki Kikuchi, Koichiro Susa, Jessica X. Chong, Michael J. Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara, Chia-Lin Wei, Michael J. Bamshad, Evan E. Eichler, Kailyn Anderson, Peter Anderson, Tamara J. Bacus, Sabrina Best, Elizabeth E. Blue, Katherine Brower, Kati J. Buckingham, Brianne Carroll, Silvia Casadei, Jessica X. Chong, Nikhita Damaraju, Colleen P. Davis, Christian D. Frazar, Sophia Gibson, Joy Goffena, William W. Gordon, Jonas A. Gustafson, William T. Harvey, Martha Horike-Pyne, Jameson R. Hurless, Caitlin Jacques, Gail P. Jarvik, Eric Johanson, J. Thomas Kolar, Xiaomeng Liu, Colby T. Marvin, Sean McGee, Holli Meyers, Danny E. Miller, Patrick M. Nielsen, Karynne Patterson, Aparna Radhakrishnan, Matthew A. Richardson, Erica L. Ryke, Aliya Sarkytbayeva, Tristan Shaffer, Kathryn M. Shively, Olivia M. Sommers, Sophie H.R. Storz, Joshua D. Smith, Lea M. Starita, Monica Tackettl, Sydney A. Ward, Jeffrey M. Weiss, Qian Yi, Miranda P.G. Zalusky, Michael J. Bamshad, Danny E. Miller, Evan E. Eichler, Heather Mefford
Published 2024-12-01Get full text
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