EpiSign Inc announces the launch of EpiSign METRIC 5- base, extending its comprehensive and automated episignature analysis framework from methylation microarrays to sequencing-based DNA methylation data.

This new software allows laboratories to analyze methylation information generated by sequencing with the same EpiSign METRIC Version 6-classification framework as array analysis, which is used for array analysis. The software can automatically analyze over 300 types of episignature-related diseases and will be directly available through the EpiSign platform as well as to laboratories within the international EpiSign clinical testing network.

With the development of genomic sequencing technology, genetic and epigenetic information can increasingly be generated from the same dataset. However, converting the methylation signals obtained from sequencing into standardized interpretations for rare diseases remains an important analytical challenge. EpiSign METRIC 5- base aims to fill this gap, allowing laboratories to use existing classification frameworks without having to develop and maintain hundreds of disease-specific classifiers, reference datasets, and analysis processes on their own.

The company stated that the new workflow has undergone technical validation on three supported sequencing platforms, and its performance is comparable to that of the existing EpiSign METRIC methylation microarray framework. Next, the EpiSign clinical testing network will use locally generated sequencing data to conduct more extensive site-level validation.

"The launch of EpiSign METRIC and base has enabled comprehensive episignature analysis to no longer rely on a single laboratory technology," said Dr. Bekim Sadikovic, co-founder and Chief Scientific Officer of EpiSign Inc. "Laboratories that generate methylation data using microarrays, base sequencing, or long-read sequencing can now analyze it through the same comprehensive and automated classification framework that covers over 300 types of episignature-related diseases. This creates an opportunity to combine genetic and epigenetic information in a unified genomic analysis process."

"Our goal is to make the interpretation of complex epigenomes accessible, without requiring each laboratory to build its own analytical infrastructure," said Dan Sinai, CEO of EpiSign Inc. "EpiSign METRIC 5- base provides a direct path for laboratories to evaluate and adopt sequence-based episignature analyses through the EpiSign platform and the international EpiSign clinical testing network."

The Clinical Diagnosis Laboratory Ambry Genetics is one of the sites in the EpiSign clinical testing network and has completed a preliminary assessment of the methylation data generated by PacBio HiFi sequencing.

"Long-read genome sequencing provides rich genomic and methylation information, but translating methylation signals into standardized interpretations for rare diseases remains an important challenge," said Seth Berger, Director of转化基因组学 at Ambry Genetics. "Our preliminary evaluation using PacBio HiFi data on EpiSign METRIC shows that comprehensive episignature analysis has the potential to provide an additional layer of functionality for resolving uncertain genomic findings. We look forward to assessing how this capability can complement our long-read sequencing projects as well as broader diagnostic interpretation methods."

The Amsterdam University Medical Center Amsterdam UMC is a mature laboratory within the EpiSign clinical testing network and also a leading center for clinical episignature testing in Europe. The institution has established local Oxford Nanopore sequencing capabilities and is participating as a ONT early access evaluation site. Preliminary analysis of its ONT source methylation data shows encouraging results, but the remaining clinical validation and implementation work is still in progress.

“Oxford Nanopore sequencing provides the opportunity to generate long-read genomic information and native DNA methylation information within the same dataset,” said Dr. Marielle, head of the Amsterdam UMC Genomics Analysis Laboratory. “Since we have established local ONT sequencing capabilities, we are able to obtain comprehensive EpiSign METRIC Version 6-frame data, which creates an important opportunity to integrate standardized episignature analyses covering over 300 diseases into our rare disease projects. We look forward to collaborating with EpiSign as an early clinical testing site to evaluate episignature analyses based on ONT.”

Greenwood Genetic Center is one of the few laboratories in the United States to have introduced long-read genome sequencing into clinical practice, and it is also the first institution of its kind in its region to do so. As a site already part of the EpiSign clinical testing network and with extensive experience in array-based clinical episignature testing, this center is well-positioned to evaluate the integration of DNA methylation analysis into its long-read genome sequencing workflow.

"As one of the earliest 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 this data," said Dr. Matthew Tedder, a scientist at Greenwood Genetic Center. "We have extensive experience in using methylation microarrays for clinical episignature testing, and we believe that integrating DNA methylation analysis into the interpretation of long-read genomes is an important next step. We look forward to evaluating EpiSign METRIC 5- base as a path to bring comprehensive epigenomic analysis into the long-read sequencing workflow and ultimately into clinical services."

EpiSign METRIC 5- base will be available starting from September 30, 2026. Laboratories that wish to obtain early access, local validation, or participate in the EpiSign clinical trial network can contact EpiSign for more information.

EpiSign METRIC 5- base For research purposes only.

For more information or to apply for access, please visit https :// episign.com / metric /5- base /

Regarding EpiSign Inc.

EpiSign Inc. Develops advanced DNA methylation analysis software for rare diseases and clinical epigenomics applications. Its EpiSign METRIC platform performs automatic analysis of disease-related DNA methylation episignature through a comprehensive reference and classification framework. EpiSign collaborates with global clinical and research laboratories through the EpiSign clinical testing network and EpiSign Discovery Network.