Mallory J Owen, Sebastien Lefebvre, Christian Hansen, Chris M Kunard, David P Dimmock, Laurie D Smith, Gunter Scharer, Rebecca Mardach, Mary J Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R Lajoie, Timothy K McPhail, Shyamal S Mehtalia, Kevin K Chau, Yong H Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S Wright, Martin G Reese, Francisco M De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S Thomson, Louise Fraser, Seka S Lazare, Yoon H Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A Richardson, John Reynders, Thomas Defay, Kevin P Hall, Narayanan Veeraraghavan, Stephen F Kingsmore
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases, timely molecular diagnosis may not improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for genetic disease diagnosis and acute management guidance. Diagnosis is achieved in 13.5 h by expedited whole genome sequencing, with superior analytic performance for structural and copy number variants...
July 26, 2022: Nature Communications