Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Bekim SadikovicMichael A LevyJennifer KerkhofErfan Aref-EshghiLaila SchenkelAlan StuartHaley McConkeyPeter HennemanAndrea VenemaCharles E SchwartzRoger E StevensonSteven A SkinnerBarbara R DuPontRobin S FletcherTugce B BalciVictoria Mok SiuJorge L GranadilloJennefer MastersMike KadourMichael J FriezMieke M van HaelstMarcel M A M MannensRaymond J LouieJennifer A LeeMatthew L TedderMarielle Alders

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

This study describes the implementation of diagnostic clinical genomic DNA methylation testing in patients with rare disorders. It provides strong evidence of clinical utility of EpiSign analysis, including the ability to provide conclusive findings in the majority of subjects tested.

Keyphrases

dna methylation
genome wide
gene expression
primary care
copy number
quality improvement