Related Experiment Video

Updated: Jul 12, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline

Pratibha Bawa1, Jessica Rzasa2, Jennifer Kerkhof2

  • 1Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Molecular Syndromology
|July 11, 2026
PubMed
Summary

Episignatures, DNA methylation patterns, aid in interpreting variants of uncertain significance (VUS) for rare genetic disorders. The METRIC score shows high concordance, enhancing diagnostic confidence for conditions like Rubinstein-Taybi and Cornelia de Lange syndromes.

Keywords:
ChromatinopathyEpiSign™ METRIC V5 AssayEpisignatureGlobal DNA methylation

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Related Concept Videos