LONDON, ON, June 29, 2026 — EpiSign Inc. announces the release of EpiSign™ version 6 (v6), the latest advancement of its DNA methylation episignature classifier and analysis platform.
EpiSign™ is a software platform that analyzes genome-wide DNA methylation patterns to identify disease-associated “episignatures”—distinct epigenetic biomarkers linked to specific rare genetic conditions. By comparing patient data to a large reference database, EpiSign™ supports laboratories in interpreting complex methylation profiles and identifying biologically meaningful patterns associated with disease.
Building on EpiSign™ version 5, which included approximately 140 genes and associated disorders, EpiSign™ v6 expands coverage to over 310 episignature conditions. This expanded scope increases the ability to identify and interpret disease-associated methylation patterns across a broader range of rare disorders.
EpiSign™ v6 introduces several enhancements designed to improve the detection and interpretation of complex methylation signals. These include improved sensitivity to subtle and mixed signals, the ability to better detect partial or mosaic effects, and refined scoring approaches that provide more consistent and quantitative assessment of results. Together, these updates support more confident interpretation across a wider range of biological scenarios.
The updated classifier also incorporates broader pattern recognition across related genes and pathways. By leveraging shared methylation signatures across biologically connected conditions, EpiSign™ v6 improves performance in genetically complex and heterogeneous disorders where single-gene approaches may be limited.
EpiSign™ v6 is fully integrated with the EpiSign™ METRIC platform, enabling standardized, scalable analysis through a cloud-based environment. The platform supports consistent data processing, streamlined workflows, and clear, structured reporting to assist laboratories in interpreting methylation findings.
EpiSign™ v6 represents a continued step forward in expanding the scope and precision of DNA methylation analysis. The platform enhances the ability to detect a wider spectrum of epigenetic variation, including subtle and complex patterns, and supports ongoing efforts to improve interpretation of rare disease biology.
Please refer to the EpiSign™ v6 testing menu on our website for a complete list of tested conditions.