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Diagnosis Safe Moderate Evidence
ClinGen search dosage sensitivity
by Harvard MIMS Lab (ToolUniverse)
Description
Search ClinGen dosage sensitivity curations by gene symbol. Returns haploinsufficiency (HI) and triplosensitivity (TS) scores (0-3 scale). Score 3 = Sufficient evidence for dosage pathogenicity. Critical for CNV interpretation. Example: MECP2 has HI score of 3.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse clingen gene-disease clinical-genetics