GitHub topics: pathogenic-variants
vicsanga/Postre
POSTRE: Prediction Of STRuctural variant Effects
Language: R - Size: 136 MB - Last synced at: 2 months ago - Pushed at: 2 months ago - Stars: 21 - Forks: 1
ding-lab/CharGer
Characterization of Germline variants
Language: Python - Size: 16.8 MB - Last synced at: 11 days ago - Pushed at: about 3 years ago - Stars: 98 - Forks: 37
uab-cgds-worthey/DITTO-UI
Easy to use web interface for biologists to look for genetic variants and understand their deleteriousness using DITTO scores.
Language: Python - Size: 2.5 MB - Last synced at: 6 months ago - Pushed at: 6 months ago - Stars: 4 - Forks: 0
sigven/cpsr
Cancer Predisposition Sequencing Reporter (CPSR)
Language: R - Size: 15.3 MB - Last synced at: 11 months ago - Pushed at: 11 months ago - Stars: 53 - Forks: 12
Hansi-Thewarapperuma/Inherited_Risk_Detector
Identification of cancer-causing variants
Language: Python - Size: 7.74 MB - Last synced at: 11 months ago - Pushed at: about 1 year ago - Stars: 1 - Forks: 0
quinlan-lab/pathoscore
pathoscore evaluates variant pathogenicity tools and scores.
Language: Python - Size: 158 KB - Last synced at: 23 days ago - Pushed at: about 3 years ago - Stars: 21 - Forks: 8
russelllab/presr
PRESR is a predictor of pathogenicity of MUNC18-1 variants
Language: R - Size: 86.9 MB - Last synced at: over 1 year ago - Pushed at: over 1 year ago - Stars: 1 - Forks: 1
cmbi/metadome
MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.
Language: Python - Size: 2.45 MB - Last synced at: 12 months ago - Pushed at: about 2 years ago - Stars: 6 - Forks: 2
sigven/cacao
Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer
Language: R - Size: 20.4 MB - Last synced at: over 1 year ago - Pushed at: over 4 years ago - Stars: 21 - Forks: 4
umr1283/MODY_GENES
Code associated with the article entitled "Pathogenic variants in actionable MODY genes associate with type 2 diabetes"
Language: Perl - Size: 213 KB - Last synced at: about 2 years ago - Pushed at: almost 3 years ago - Stars: 0 - Forks: 0
