GitHub topics: variant-interpretation

Repositories

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: 7 days ago - Pushed at: 8 days ago - Stars: 9 - Forks: 2

molgenis/vip

Variant Interpretation Pipeline

Language: Shell - Size: 514 MB - Last synced at: 11 days ago - Pushed at: 11 days ago - Stars: 25 - Forks: 6

sigven/pcgr

Personal Cancer Genome Reporter (PCGR)

Language: R - Size: 86.2 MB - Last synced at: 4 days ago - Pushed at: 4 days ago - Stars: 260 - Forks: 48

brentp/slivar

genetic variant expressions, annotation, and filtering for great good.

Language: Nim - Size: 3.25 MB - Last synced at: 2 months ago - Pushed at: 3 months ago - Stars: 255 - Forks: 23

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: 3 months ago - Pushed at: 3 months ago - Stars: 16 - Forks: 4

GeneGee/explanation-of-variants

Aid for explanation of genetic variants in human

Language: Python - Size: 2.38 MB - Last synced at: 9 months ago - Pushed at: over 6 years ago - Stars: 0 - Forks: 0

LOVDnl/LOVDplus

LOVD+ -- LOVD for diagnostics: analysis of whole-exome data using LOVD.

Language: PHP - Size: 25.5 MB - Last synced at: 12 months ago - Pushed at: 12 months 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