This webinar will explore the role of DNA methylation episignatures as clinically actionable biomarkers for the diagnosis of rare genetic disorders. Dr. Bekim Sadikovic will highlight how genome-wide methylation profiling enables functional interpretation of genetic variation, including the resolution of variants of uncertain significance, while also supporting screening in patients with suspected genetic disease. The session will provide insight into the development, validation, and global implementation of episignature-based testing in clinical laboratories. Emphasis will be placed on real-world applications, demonstrating how epigenomic data can improve diagnostic yield and advance precision medicine.
Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.
Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.