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
Affiliations
- Mallory J. Owen
- Rady Children’s Institute for Genomic Medicine
- Sebastien Lefebvre
- Alexion Pharmaceuticals, Inc.
- Christian Hansen
- Rady Children’s Institute for Genomic Medicine
- Chris M. Kunard
- Illumina, Inc.
- David P. Dimmock
- Rady Children’s Institute for Genomic Medicine
- Laurie D. Smith
- Rady Children’s Institute for Genomic Medicine
- Gunter Scharer
- Rady Children’s Institute for Genomic Medicine
- Rebecca Mardach
- Rady Children’s Hospital
- Mary J. Willis
- Rady Children’s Institute for Genomic Medicine
- Annette Feigenbaum
- Rady Children’s Hospital
- Anna-Kaisa Niemi
- Rady Children’s Hospital
- Yan Ding
- Rady Children’s Institute for Genomic Medicine
- Luca Van Der Kraan
- Rady Children’s Institute for Genomic Medicine
- Katarzyna Ellsworth
- Rady Children’s Institute for Genomic Medicine
- Lucia Guidugli
- Rady Children’s Institute for Genomic Medicine
- Bryan R. Lajoie
- Illumina, Inc.
- Timothy K. McPhail
- Illumina, Inc.
- Shyamal S. Mehtalia
- Illumina, Inc.
- Kevin K. Chau
- Rady Children’s Institute for Genomic Medicine
- Yong H. Kwon
- Rady Children’s Institute for Genomic Medicine
- Zhanyang Zhu
- Rady Children’s Institute for Genomic Medicine
- Sergey Batalov
- Rady Children’s Institute for Genomic Medicine
- Shimul Chowdhury
- Rady Children’s Institute for Genomic Medicine
- Seema Rego
- Rady Children’s Institute for Genomic Medicine
- James Perry
- Rady Children’s Hospital
- Mark Speziale
- Rady Children’s Hospital
- Mark Nespeca
- Rady Children’s Hospital
- Meredith S. Wright
- Rady Children’s Institute for Genomic Medicine
- Martin G. Reese
- Fabric Genomics, Inc.
- Francisco M. De La Vega
- Fabric Genomics, Inc.
- Joe Azure
- Fabric Genomics, Inc.
- Erwin Frise
- Fabric Genomics, Inc.
- Charlene Son Rigby
- Fabric Genomics, Inc.
- Sandy White
- Fabric Genomics, Inc.
- Charlotte A. Hobbs
- Rady Children’s Institute for Genomic Medicine
- Sheldon Gilmer
- Rady Children’s Hospital
- Gail Knight
- Rady Children’s Hospital
- Albert Oriol
- Rady Children’s Institute for Genomic Medicine
- Jerica Lenberg
- Rady Children’s Institute for Genomic Medicine
- Shareef A. Nahas
- Rady Children’s Institute for Genomic Medicine
- Kate Perofsky
- Rady Children’s Institute for Genomic Medicine
- Kyu Kim
- Rady Children’s Institute for Genomic Medicine
- Jeanne Carroll
- Rady Children’s Institute for Genomic Medicine
- Nicole G. Coufal
- Rady Children’s Institute for Genomic Medicine
- Erica Sanford
- Rady Children’s Institute for Genomic Medicine
- Kristen Wigby
- Rady Children’s Institute for Genomic Medicine
- Jacqueline Weir
- Illumina, Inc.
- Vicki S. Thomson
- Illumina, Inc.
- Louise Fraser
- Illumina, Inc.
- Seka S. Lazare
- Illumina, Inc.
- Yoon H. Shin
- Illumina, Inc.
- Haiying Grunenwald
- Illumina, Inc.
- Richard Lee
- Illumina, Inc.
- David Jones
- Illumina, Inc.
- Duke Tran
- Illumina, Inc.
- Andrew Gross
- Illumina, Inc.
- Patrick Daigle
- Illumina, Inc.
- Anne Case
- Illumina, Inc.
- Marisa Lue
- Illumina, Inc.
- James A. Richardson
- Illumina, Inc.
- John Reynders
- Alexion Pharmaceuticals, Inc.
- Thomas Defay
- Alexion Pharmaceuticals, Inc.
- Kevin P. Hall
- Illumina, Inc.
- Narayanan Veeraraghavan
- Rady Children’s Institute for Genomic Medicine
- Stephen F. Kingsmore
- Rady Children’s Institute for Genomic Medicine
- DOI
- https://doi.org/10.1038/s41467-022-31446-6
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 14
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.
