DECIPHER (Database of Genomic Variants and Phenotype in Humans)
Wellcome Sanger Institute database for mapping genomic variants to clinical phenotypes. Particularly strong for CNVs and structural variants.
What It Does
- Maps genomic variants (especially CNVs/SVs) to clinical phenotypes
- Contains 40,000+ patient submissions from 300+ clinical centers
- Links structural variants to developmental disorders
- Haploinsufficiency and triplosensitivity scores
How to Use
Web
- Go to https://www.deciphergenomics.org
- Search: “STRC” or chr15:43599563-43618800
- View CNVs overlapping STRC region
API
curl "https://www.deciphergenomics.org/sequence/search?q=STRC"Verified Status
VERIFIED — STRC gene found with CNV data. REST API available at https://www.deciphergenomics.org/api. Contains multiple CNVs affecting STRC region associated with hearing loss phenotypes.
STRC Research Usage
- STRC region CNVs found in database — multiple patients with chr15q15.3 deletions and hearing loss
- Relevant for Misha’s paternal 98kb deletion — can find similar patients for natural history comparison
Connections
- gnomAD [see-also] — population SVs
- ClinGen [see-also] — dosage sensitivity
- STRC Pseudogene Problem [see-also]
[part-of]Genomics & Bioinformatics Tools