MyOme and SickKids Collaborate to Clinically Validate DNA Methylation Signatures Using Long-Read Sequencing

MyOme Licenses SickKids-Developed DNA Methylation Signatures to Strengthen Long-Read Rare Disease Testing.

MENLO PARK, Calif., Nov. 4, 2026 /PRNewswire/ -- MyOme, a CLIA-certified, CAP-accredited clinical whole-genome analysis company, today announced a licensing and research agreement with The Hospital for Sick Children (SickKids) through its Industry Partnerships & Commercialization (IP&C) team under which MyOme will integrate DNA methylation signatures developed by SickKids researchers into its clinical rare disease testing. The signatures come from the laboratory of Dr. Rosanna Weksberg, Clinical Geneticist and Senior Associate Scientist in the Genetics & Genome Biology program at SickKids and Professor of Paediatrics and Medical Genetics at the University of Toronto.

MyOme's long-read sequencing platform reads DNA sequence and methylation in a single test. By adding SickKids-developed signatures to that platform, MyOme will be able to use disease-specific methylation patterns, alongside sequence variants, to aid interpretation of clinical cases.

Under the agreement, MyOme has obtained a US-exclusive license to SickKids-developed signatures for use in its clinical testing. The rollout begins with clinical validation in MyOme's laboratory. The signatures are expected to reach clinicians through MyOme's genome and exome testing, which is commercially available through Zenith™ offered by Natera. The agreement will support work in Dr. Weksberg's lab to co-develop new signatures with MyOme, steadily expanding the range of conditions MyOme's testing can detect.

Working toward Closing the Diagnostic Gap

Families of children with rare genetic conditions wait an average of five years for a diagnosis, according to the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. Many children remain undiagnosed even after exome or genome sequencing. When sequencing does find a variant, its significance is often uncertain. DNA methylation signatures can help close that gap. These are distinct patterns of chemical marks across the genome, and many genetic conditions leave a characteristic methylation "fingerprint." That fingerprint can confirm a diagnosis, clarify an uncertain variant, or point to a condition that standard sequencing missed. Today, methylation signature testing usually means a second, array-based test after sequencing. Long-read sequencing captures sequence and methylation from the same DNA, so one test can answer both questions.

Built on More Than a Decade of SickKids Research

Dr. Weksberg's team, including Senior Research Associate Sanaa Choufani, has spent more than a decade developing more than 60 methylation signatures focused on neurodevelopmental disorders.

The team's work has been published in The American Journal of Human Genetics and other journals and draws on large patient cohorts. Each signature is built, tested and refined across successive cohorts. That iterative approach has also shown that different variants in the same gene can leave distinct methylation patterns that track with different clinical features. Those findings point to potential disease subtypes and help explain why children with the same diagnosis can follow different clinical courses.

From Validation to Launch

Clinical validation of an initial set of signatures will take place in MyOme's laboratory who will test a set of samples with known condition status, to confirm that long-read sequencing data correctly detects the presence or absence of each signature.

Because methylation analysis is already part of eligible MyOme rare disease orders, each validated signature can be added to existing testing without a new sample or a separate order. Clinicians ordering MyOme's exome and genome tests, or Zenith™ powered by MyOme through Natera, will receive signature results in the same report. 

The partnership includes co-development of additional methylation signatures.

"SickKids has built one of the deepest and most rigorously tested collections of methylation signatures in the world. Adding them to our long-read platform makes every eligible MyOme rare disease test more powerful. Clinicians get sequence and methylation answers from one sample, instead of waiting on a second test."
Dr. Akash Kumar, Chief Medical Officer, MyOme

"Through our research, we have seen that different variants in the same gene could leave clearly different methylation patterns that reflect what we see in the clinic. That told us these signatures could tell us important information beyond whether a variant is harmful. We've spent more than a decade refining this work, and this collaboration creates an opportunity to clinically validate the signatures and explore how this research could ultimately reach more clinicians and families who are still searching for answers."
Dr. Rosanna Weksberg, Clinical Geneticist and Senior Associate Scientist, Genetics & Genome Biology, SickKids

"This agreement reflects what we aim to enable through SickKids Industry Partnerships & Commercialization: creating pathways for research discoveries to move toward broader clinical use. By bringing together a licensing agreement with continued research, the collaboration will support both the clinical validation of existing signatures and the development of new ones."
Ihor Boszko, Executive Director, Industry Partnerships & Commercialization, SickKids

About MyOme

MyOme is a clinical whole genome analysis company helping families understand their risk for diseases. As a leader in polygenic and AI-based integrative risk modeling, MyOme's platform combines genome sequencing with AI-driven analytics to integrate polygenic risk scores with established clinical predictors, enabling a more comprehensive approach to disease risk assessment. MyOme leverages the power of the whole-genome and clinical data for a lifetime of clinically meaningful and actionable insights. MyOme's rare disease exome and genome tests, also available through Zenith™ powered by MyOme from Natera, integrate long-read methylation analysis to help clinicians reach answers for patients with suspected genetic conditions. Certified under the Clinical Laboratory Improvement Amendments (CLIA) and accredited by the College of American Pathologists (CAP), MyOme is based in Menlo Park, California.

SOURCE MyOme, Inc