New software extends automated analysis of more than 300 episignature disorders beyond methylation microarrays to Illumina 5-base, PacBio HiFi and Oxford Nanopore sequencing data

LONDON, ON, Sept. 30, 2026 /PRNewswire/ -- EpiSign Inc. today announced the launch of EpiSign METRIC 5-base, extending its comprehensive and automated episignature analysis framework beyond methylation microarrays to sequencing-derived DNA methylation data.

EpiSign METRIC 5-base enables laboratories to analyze methylation information generated using Illumina 5-base, PacBio HiFi and Oxford Nanopore sequencing through the same EpiSign METRIC Version 6 classification framework used for array-based analysis. The software provides automated analysis across more than 300 episignature disorders and will be available directly through the EpiSign platform and to laboratories across the international EpiSign Clinical Testing Network.

Genome-sequencing technologies increasingly allow genetic and epigenetic information to be generated from the same dataset. However, translating sequencing-derived methylation signals into standardized rare-disease interpretation has remained a significant analytical challenge. EpiSign METRIC 5-base addresses this gap by giving laboratories access to an established classification framework without requiring them to independently develop and maintain hundreds of disease-specific classifiers, reference datasets and analytical pipelines.

The new workflows have undergone technical validation across all three supported sequencing platforms and have demonstrated performance comparable to the established EpiSign METRIC methylation-array framework. Broader site-level validation will now proceed through the EpiSign Clinical Testing Network using locally generated sequencing data.

"The launch of EpiSign METRIC 5-base moves comprehensive episignature analysis beyond dependence on a single laboratory technology," said Dr. Bekim Sadikovic, co-founder and Chief Scientific Officer of EpiSign Inc. "Laboratories generating methylation data by microarray, 5-base sequencing or long-read sequencing can now access the same comprehensive and automated classification framework across more than 300 episignature disorders. This creates an opportunity to analyze genetic and epigenetic information together within an integrated genome-analysis workflow."

"Our objective is to make sophisticated epigenomic interpretation accessible without requiring every laboratory to develop its own analytical infrastructure," said Dan Sinai, Chief Executive Officer of EpiSign Inc. "EpiSign METRIC 5-base provides laboratories with an immediate pathway to evaluate and adopt sequencing-based episignature analysis through the EpiSign platform and the international EpiSign Clinical Testing Network."

Ambry Genetics, a leading clinical diagnostic laboratory and EpiSign Clinical Testing Network site, has completed an initial evaluation of EpiSign METRIC using methylation data generated through PacBio HiFi sequencing.

"Long-read genome sequencing provides rich genomic and methylation information, but translating the methylation signal into standardized rare-disease interpretation remains an important challenge," said Seth Berger, Translational Genomics Director, Ambry Genetics . "Our initial evaluation of EpiSign METRIC using PacBio HiFi data demonstrates the potential for comprehensive episignature analysis to provide an additional functional layer for resolving uncertain genomic findings. We look forward to evaluating how this capability could complement our long-read sequencing program and broader approach to diagnostic interpretation."

Amsterdam UMC, an established EpiSign Clinical Testing Network laboratory and a leading European centre for clinical episignature testing, has established local Oxford Nanopore sequencing capability and is participating as an early-access ONT evaluation site. Initial analysis of its ONT-derived methylation data has shown encouraging performance of the platform, with remaining clinical validations and implementations currently ongoing.

"Oxford Nanopore sequencing provides the opportunity to generate long-read genomic and native DNA methylation information within the same dataset," said Dr. Marielle van Gijn, Head of Genome Analysis Laboratory, Amsterdam UMC . "As Amsterdam UMC has established local ONT sequencing capability, access to the comprehensive EpiSign METRIC Version 6 framework creates an important opportunity to integrate standardized episignature analysis across more than 300 disorders into our rare-disease program. We look forward to working with EpiSign as an early Clinical Testing Network site evaluating ONT-based episignature analysis."

Greenwood Genetic Center is among a select group of laboratories in the United States - and the first in its region - to introduce long-read genomic sequencing into clinical practice. As an established EpiSign Clinical Testing Network site with extensive experience in array-based clinical episignature testing, Greenwood is positioned to evaluate the integration of DNA methylation analysis into its long-read genome-sequencing workflow.

"As one of the first laboratories in the United States to introduce long-read genome sequencing into clinical practice, Greenwood Genetic Center recognizes the importance of capturing the full diagnostic value of these data," said Dr. Matthew Tedder, Staff Scientist, Greenwood Genetic Center . "We have extensive experience providing clinical episignature testing using methylation arrays, and we see the integration of DNA methylation analysis into long-read genome interpretation as an important next step. We look forward to evaluating EpiSign METRIC 5-base as a pathway for bringing comprehensive epigenomic analysis into our long-read sequencing workflow and, ultimately, our clinical services."

EpiSign METRIC 5-base will be available beginning September 30, 2026. Laboratories interested in early access, local validation or participation through the EpiSign Clinical Testing Network may contact EpiSign for additional information.

EpiSign METRIC 5-base is available for research use only.

For more information or to request access visit https://episign.com/metric/5-base/

About EpiSign Inc.

EpiSign Inc. develops advanced DNA methylation analysis software for rare-disease and clinical epigenomic applications. Its EpiSign METRIC platform provides automated analysis of disease-associated DNA methylation episignatures through a comprehensive reference and classification framework. EpiSign works with clinical and research laboratories internationally through the EpiSign Clinical Testing Network and EpiSign Discovery Network.

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SOURCE EpiSign Inc.