EpiSign METRIC 5-base: A New Era for Episignature Analysis in Genomics

New Horizons in Genomic Analysis with EpiSign METRIC 5-base

EpiSign Inc. has recently made a significant advancement in the field of genetic analysis with the launch of "EpiSign METRIC 5-base." Scheduled for release on September 30, 2026, this innovative software expands its existing framework for episignature analysis, now inclusive of sequencing data from renowned platforms such as Illumina 5-base, PacBio HiFi, and Oxford Nanopore. This represents a monumental shift from traditional methylation microarrays, allowing laboratories to perform comprehensive analyses of over 300 episodic disorders with greater efficiency.

The integration of sequencing-derived DNA methylation data into EpiSign METRIC 5-base presents an invaluable opportunity for laboratories seeking to streamline their analysis workflows. Dr. Bekim Sadikovic, co-founder and Chief Scientific Officer at EpiSign, remarked on the importance of this launch, stating that it enhances laboratories' capabilities without requiring them to independently develop complex classifiers and analytical tools.

Traditionally, the translation of sequencing-derived methylation signals into a standardized interpretation has posed an analytical challenge for geneticists. EpiSign METRIC 5-base addresses this gap by offering a robust classification framework that simplifies the interpretation process for rare diseases. With one standardized solution, laboratories can now analyze genetic and epigenetic data in tandem, ultimately improving their investigative quality and diagnostic accuracy.

In validating the new workflows, EpiSign has ensured their performance aligns with the well-established capabilities of the original EpiSign METRIC methylation-array framework. The broader validation initiative will take place through the EpiSign Clinical Testing Network, employing locally generated sequencing data which promises further credibility and reliability.

Ambry Genetics, a leading clinical diagnostic laboratory and part of the EpiSign Clinical Testing Network, has already undertaken an initial evaluation of EpiSign METRIC utilizing methylation data acquired via PacBio HiFi sequencing. Seth Berger, the Translational Genomics Director there, expressed optimism about the potential of long-read genome sequencing to resolve uncertain genomic findings, and he looks forward to combining this capability with their extensive diagnostic interpretation processes.

Amsterdam UMC, renowned for its role as a key European hub for clinical episignature testing, is also an early adopter of the Oxford Nanopore sequencing technology. With their recent establishment of local ONT sequencing capabilities, Amsterdam UMC aims to integrate the comprehensive EpiSign METRIC Version 6 framework into its rare-disease programs. Dr. Marielle van Gijn, Head of Genome Analysis Laboratory, emphasized the critical nature of this integration, which promises to enhance the existing workflows in clinical settings.

The Greenwood Genetic Center stands out as one of the pioneering laboratories in the United States to incorporate long-read genomic sequencing into routine clinical practice. Dr. Matthew Tedder, a staff scientist at Greenwood, acknowledged the importance of maximizing the diagnostic value of the sequencing data. He expressed optimism regarding the EpiSign METRIC 5-base, viewing it as an essential progression towards comprehensive epigenomic analysis woven into their clinical services.

EpiSign METRIC 5-base is poised to allow laboratories an immediate pathway to adopt sequencing-based episignature analysis. Laboratories looking for early access, local validation, or further collaboration via the EpiSign Clinical Testing Network are encouraged to reach out for additional details.

As epigenomic diagnostics continue to evolve, the launch of EpiSign METRIC 5-base sets a new standard in the field, aiming to empower laboratories worldwide with integrated, automated analyses that open the door to more advanced genetic testing solutions. For more information or to request access, potential users can visit EpiSign METRIC.