Topic: "variant-interpretation"
sigven/pcgr
Personal Cancer Genome Reporter (PCGR)
Language: R - Size: 85.4 MB - Last synced at: 16 days ago - Pushed at: 16 days ago - Stars: 266 - Forks: 48
brentp/slivar
genetic variant expressions, annotation, and filtering for great good.
Language: Nim - Size: 3.26 MB - Last synced at: about 24 hours ago - Pushed at: 13 days ago - Stars: 262 - Forks: 24
molgenis/vip
Variant Interpretation Pipeline
Language: Shell - Size: 514 MB - Last synced at: 20 days ago - Pushed at: 20 days ago - Stars: 40 - Forks: 7
WGLab/PhenoSV
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Language: Python - Size: 15.5 MB - Last synced at: 6 months ago - Pushed at: 6 months ago - Stars: 16 - Forks: 4
laurensvdwiel/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: 2.46 MB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 9 - Forks: 2
AMSSwanglab/hReg-CNCC
hReg-CNCC is a high-quality Regulatory network of Cranial Neural Crest Cell (CNCC), built by consensus optimization.
Language: Python - Size: 180 MB - Last synced at: almost 2 years ago - Pushed at: almost 4 years ago - Stars: 5 - Forks: 0
LOVDnl/LOVDplus
LOVD+ -- LOVD for diagnostics: analysis of whole-exome data using LOVD.
Language: PHP - Size: 25.5 MB - Last synced at: about 1 year ago - Pushed at: about 1 year ago - Stars: 4 - Forks: 1
AMSSwanglab/SpecVar
SpecVar is a convenient tool for estimating interpretable genetic correlation of human complex traits and annotating the SNPs with context specific regulatory networks
Language: Shell - Size: 268 MB - Last synced at: about 2 years ago - Pushed at: about 2 years ago - Stars: 2 - Forks: 0
GeneGee/explanation-of-variants
Aid for explanation of genetic variants in human
Language: Python - Size: 2.38 MB - Last synced at: 12 months ago - Pushed at: almost 7 years ago - Stars: 0 - Forks: 0
ahwagner/pymvld
A Python implementation of the Minimum Variant Level Data standard
Language: Python - Size: 14.6 KB - Last synced at: 4 months ago - Pushed at: almost 7 years ago - Stars: 0 - Forks: 0
