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Diagnosis Safe Moderate Evidence
ClinGen get dosage sensitivity
by Harvard MIMS Lab (ToolUniverse)
Description
Get all ClinGen dosage sensitivity curations. Returns haploinsufficiency and triplosensitivity scores for curated genes. Set include_regions=true to also get recurrent CNV regions. Scores: 0=No evidence, 1=Little, 2=Emerging, 3=Sufficient evidence.
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse clingen gene-disease clinical-genetics