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

ABSTRACT:

Purpose

We describe the clinical implementation of genome-wide DNA methylation analysis in rare disorders across the EpiSign diagnostic laboratory network and the assessment of results and clinical impact in the first subjects tested.

Methods

We outline the logistics and data flow between an integrated network of clinical diagnostics laboratories in Europe, the United States, and Canada. We describe the clinical validation of EpiSign using 211 specimens and assess the test performance and diagnostic yield in the first 207 subjects tested involving two patient subgroups: the targeted cohort (subjects with previous ambiguous/inconclusive genetic findings including genetic variants of unknown clinical significance) and the screening cohort (subjects with clinical findings consi

SUBMITTER: Sadikovic B 

PROVIDER: S-EPMC8187150 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature