Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.

Ales MaverLuca LovrecicMarija VolkGorazd RudolfKarin WritzlAna BlatnikAlenka HodzicPeterlin Borut

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

In conclusion, we present a novel approach to a phenotype-driven diagnostic process of genome scale sequencing data that harnesses the sensitivity of these approaches while restricting the analysis to genes relevant to clinical presentation in patient.Genet Med 18 11, 1102-1110.

Keyphrases

genome wide
dna methylation
copy number
electronic health record
single cell
big data
case report
data analysis
gene expression
machine learning