An open API service providing repository metadata for many open source software ecosystems.

Topic: "variant-priorisation"

4pygmalion/ASC3

3ASC: variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing

Language: Jupyter Notebook - Size: 2.28 MB - Last synced at: 6 months ago - Pushed at: 6 months ago - Stars: 7 - Forks: 0

bio-ontology-research-group/STARVar

STARVar:Symptom based Tool for Automatic Ranking of Variants using evidence from literature and genomes

Language: Python - Size: 152 KB - Last synced at: 9 months ago - Pushed at: 9 months ago - Stars: 5 - Forks: 1

varfish-org/varfish-cli-ng

(Upcoming) aws smithy based client for VarFish

Language: Dockerfile - Size: 131 KB - Last synced at: about 1 year ago - Pushed at: over 1 year ago - Stars: 0 - Forks: 0