Nature Communications (Jul 2022)

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

  • 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

DOI
https://doi.org/10.1038/s41467-022-31446-6
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 14

Abstract

Read online

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.