GitHub topics: acmg-guidelines
damianosmel/GenOtoScope
Automated ACMG/AMP classification for human variants associated with congenital hearing loss
Language: Python - Size: 42.9 MB - Last synced at: 7 days ago - Pushed at: 7 days ago - Stars: 10 - Forks: 0
pstawinski/pygenebe
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
Language: Python - Size: 2.94 MB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 6 - Forks: 0
bihealth/auto-acmg
Automatic classification of sequence variants and CNVs according to ACMG criteria.
Language: Python - Size: 42.6 MB - Last synced at: 6 months ago - Pushed at: 7 months ago - Stars: 7 - Forks: 0
Hansi-Thewarapperuma/Inherited_Risk_Detector
Identification of cancer-causing variants
Language: Python - Size: 7.74 MB - Last synced at: 12 months ago - Pushed at: about 1 year ago - Stars: 1 - Forks: 0
Derick80/variant_alleles
A PoC in using ACMG guidelines to classify variants
Language: TypeScript - Size: 8.38 MB - Last synced at: over 1 year ago - Pushed at: over 1 year ago - Stars: 0 - Forks: 0
ronaldosfjunior/VarSleuth
An R package for interpreting genetic variants according to the ACMG guidelines.
Language: R - Size: 16.6 KB - Last synced at: almost 2 years ago - Pushed at: almost 2 years ago - Stars: 0 - Forks: 0
Joword/interpretation-miniapp
a miniapp to show genetic variants interpretation result.
Language: JavaScript - Size: 940 KB - Last synced at: almost 2 years ago - Pushed at: almost 2 years ago - Stars: 0 - Forks: 0
