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

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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

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.

Area of Science:

Genetics
Epigenetics
Molecular Biology

Background:

Variants of uncertain significance (VUS) present diagnostic challenges in clinical genetics.
Episignatures, derived from DNA methylation patterns, are established biomarkers for several Mendelian disorders.

Keywords:

Chromatinopathy EpiSign™ METRIC V5 Assay Episignature Global DNA methylation

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