Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Kelly D F Hagman Deepali N Shinde Cameron Mroske Erica D Smith Kelly Radtke Elizabeth C Chao Dima El-Khechen Zöe Powis Elizabeth C ChaoWendy A AlcarazKatherine L HelbigSamin A SajanMari RossiHsiao-Mei LuRobert HuetherShuwei Li Sitao Wu Mark E Nunes Sha Tang

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

Herein, we provide transparent, comprehensive, and standardized scoring criteria for the clinical reporting of candidate genes. These results demonstrate that DES is an integral tool for genetic diagnosis, especially for elucidating the molecular basis for both characterized and novel candidate genetic etiologies. Gene discoveries also advance the understanding of normal human biology and more common diseases.Genet Med 19 2, 224-235.

Keyphrases

genome wide
copy number
dna methylation
endothelial cells
adverse drug
genome wide identification
gene expression
transcription factor