Supplementary Material: Case Reports on Episignature Testing for Variant Reclassification

A 2026 supplementary PDF document from figshare, authored by figshare admin karger, details two pediatric case reports. It describes the use of methylation-based episignature analysis to aid in the reclassification of Variants of Uncertain Significance (VUS) in Rubinstein-Taybi and Cornelia de Lange syndromes. The document introduces the METRIC scoring component of the EpiSignTM assay.

Use Cases

• Benchmarking methylation-based variant classification methods based on the described METRIC scoring system.
• Studying the integration of episignature evidence with genomic data for variant reclassification, as discussed in the case reports.
• Analyzing the clinical application of Infinium Human Methylation EPICv2 array data for Mendelian disorders.
• Reviewing case study methodology for atypical presentations of Rubinstein-Taybi and Cornelia de Lange syndromes.

Strengths

• Document is licensed under CC-BY-4.0, permitting open sharing and adaptation.
• Last updated on 2026-05-19, indicating recent maintenance.
• Introduces a specific methodological evolution from MVP to METRIC scoring for episignature analysis.

Limitations

• Dataset is a single 804.2 KB PDF file, not a structured data table; row count and column definitions are unknown.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect bias inherent to the specific case studies presented.

Provenance

Source

figshare

Collection Method

Likely contains supplementary clinical and laboratory data from the described case studies.

Time Range

Publication date suggests data is from 2026 or earlier.

Freshness

Last updated 2026-05-19 07:55:17; freshness should be verified.

Geography

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