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Abstract While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial intelligence (AI) technologies to explore the predictive value of whole exome sequencing in forecasting clinical outcomes following surgery for congenital heart defects (CHD).
1Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA 2Rady Children’s Hospital, San Diego, CA 92123, USA 3Alexion, AstraZeneca Rare Disease, Boston, MA 02210, USA 4Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA 5Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA 6Fabric Genomics, Inc., Oakland, CA 94612, USA 7Illumina, Inc., San Diego, CA 92122, USA 8Genomenon Inc., Ann...
Abstract 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.
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