EpiSign Extends Episignature Analysis to Sequencing Platforms

EpiSign Inc. has introduced EpiSign METRIC 5-base, expanding its episignature analysis framework to include sequencing-derived DNA methylation data. This extension allows for the automated analysis of over 300 episignature disorders, in addition to the company's existing array-based analysis.

The new METRIC 5-base software supports Illumina 5-base, PacBio HiFi, and Oxford Nanopore sequencing platforms. It integrates data into the same classification framework previously used for array-based analysis, removing the need for laboratories to develop separate analytical pipelines for each disorder. The software will be available through the EpiSign platform and its international Clinical Testing Network.

Advancements in genome sequencing technologies increasingly allow for the generation of both genetic and epigenetic information from a single dataset. However, translating sequencing-derived methylation signals into standardized rare-disease interpretation has remained a significant challenge. EpiSign METRIC 5-base addresses this gap by providing an established classification framework, eliminating the need for individual laboratories to develop and maintain hundreds of disease-specific classifiers.

Technical validation has demonstrated that the new workflows perform comparably to the existing EpiSign METRIC array-based framework. Broader validation will now commence through EpiSign's Clinical Testing Network using locally generated sequencing data. The company aims to make sophisticated epigenomic interpretation more accessible to laboratories worldwide.