GitHub topics: pathogenicity-classification
damianosmel/GenOtoScope
Automated ACMG/AMP classification for human variants associated with congenital hearing loss
Language: Python - Size: 42.9 MB - Last synced at: about 1 month ago - Pushed at: about 1 month ago - Stars: 10 - Forks: 0
alperbulbul1/Var3PPred
Var3PPred: Variant prediction based on 3-D structure and sequence analyses of protein-protein interactions on Autoinflammatory Disease
Language: Python - Size: 127 KB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 2 - Forks: 0
molgenis/vkgl-history-analytics
A tool that parses VKGL variant classification data from public releases, connects variants across time and provides insights by visualizing different aspects.
Language: Java - Size: 139 MB - Last synced at: 4 months ago - Pushed at: 7 months ago - Stars: 0 - Forks: 1
joerivandervelde/alphscore-gene-plots
Plot AlphaFold2-based pathogenicity prediction scores for a particular gene and suggest a gene-specific threshold for separating pathogenic from benign variants.
Language: R - Size: 16 MB - Last synced at: 4 months ago - Pushed at: almost 2 years ago - Stars: 1 - Forks: 0
