Peer-Reviewed Publication
Sci Transl Med2019;11(489)April 24, 2019Journal Article
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Michelle M Clark1, Amber Hildreth1,2,3, Sergey Batalov1, Yan Ding1, Shimul Chowdhury1, Kelly Watkins1, Katarzyna Ellsworth1, Brandon Camp1, Cyrielle I Kint4, Calum Yacoubian5, Lauge Farnaes1,2, Matthew N Bainbridge1,6, Curtis Beebe7, Joshua J A Braun1, Margaret Bray8, Jeanne Carroll1,2, Julie A Cakici1, Sara A Caylor1, Christina Clarke1, Mitchell P Creed9, Jennifer Friedman1,10, Alison Frith5, Richard Gain5, Mary Gaughran1, Shauna George7, Sheldon Gilmer7, Joseph Gleeson1,10, Jeremy Gore11, Haiying Grunenwald12, Raymond L Hovey1, Marie L Janes1, Kejia Lin7, Paul D McDonagh8, Kyle McBride7, Patrick Mulrooney1, Shareef Nahas1, Daeheon Oh1, Albert Oriol7, Laura Puckett1, Zia Rady1, Martin G Reese13, Julie Ryu1,2, Lisa Salz1, Erica Sanford1,2, Lawrence Stewart7, Nathaly Sweeney1,2, Mari Tokita1, Luca Van Der Kraan1, Sarah White1, Kristen Wigby1,2, Brett Williams5, Terence Wong1, Meredith S Wright1, Catherine Yamada1, Peter Schols4, John Reynders8, Kevin Hall12, David Dimmock1, Narayanan Veeraraghavan1, Thomas Defay8, Stephen F Kingsmore14
1Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
2Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA.
3Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
4Diploid, 3001 Leuven, Belgium.
5Clinithink Ltd., London N1 6DR, UK.
6Codified Genomics, LLC, Houston, TX 77033, USA.
7Rady Children's Hospital, San Diego, CA 92123, USA.
8Alexion Pharmaceuticals Inc., New Haven, CT 06510, USA.
9University of Kansas School of Medicine, Kansas City, MO 66160, USA.
10Department of Neurosciences, University of California San Diego, San Diego, CA 92093, USA.
11Tessella, Needham, MA 02494, USA.
12Illumina Inc., San Diego, CA 92122, USA.
13Fabric Genomics Inc., Oakland, CA 94612, USA.
14Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA. skingsmore@rchsd.org.
Abstract
By informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and pediatric intensive care units (ICUs). The need for highly qualified professionals to decipher results, however, precludes widespread implementation. We describe a platform for population-scale, provisional diagnosis o…
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