학술논문
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
Document Type
article
Author
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
Source
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
Rapid diagnosis and implementation of treatments is crucial in many genetic conditions. Here the authors describe Genome-to-Treatment, a virtual disease management system that can achieve a rapid diagnosis by expedited whole genome sequencing in 13.5 hours and provide guidance to clinicians for possible therapies.