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Cortexa research tool·genomics·clingen_dosage
ClinGen Dosage Region Search
Search ClinGen dosage sensitivity curations by genomic region. Returns all genes and recurrent CNV regions with dosage sensitivity curations overlapping the specified chromosomal coordinates. Supports both GRCh37 and GRCh38. Results include haploinsufficiency and triplosensitivity scores. Useful for interpreting the clinical significance of deletions and duplications detected by chromosomal microarray.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 31 lines · 562 chars
Examples (1)
Default ClinGen Dosage Region Search call
public-safeinput
JSON · 5 lines · 48 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_ClinGen_dosage_region_search
- Tool name
- ClinGen_dosage_region_search
- Added
- 2026-05-01 00:58Z
- Tags
- tooluniverse