variant-interpretation

There are 0 repository under variant-interpretation topic.

sigven / pcgr
Personal Cancer Genome Reporter (PCGR)
cancer-genomics cancer-variants somatic interpreter reporting-engine clinical oncology-data precision-oncology vcf tumor annotation-framework annotation-tool cancer copy-number-variation snvs therapeutic-targets precision-cancer-medicine variant-interpretation
Language:R 244
brentp / slivar
genetic variant expressions, annotation, and filtering for great good.
genomics variant-analysis variant-interpretation rare-disease rare-variant-analysis
Language:Nim 240
molgenis / vip
Variant Interpretation Pipeline
genetics pipeline variant-interpretation
Language:Shell 19
WGLab / PhenoSV
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
phenotyping structural-variants transformer variant-interpretation
Language:Python 12
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
gwas phenotopic-correlation regulatory-networks relevant-tissue variant-interpretation
Language:Shell 7
AMSSwanglab / hReg-CNCC
hReg-CNCC is a high-quality Regulatory network of Cranial Neural Crest Cell (CNCC), built by consensus optimization.
hreg-cncc consensus-optimization regulatory-network-construction variant-interpretation
Language:Python 6
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.
genes genetics proteins protein-domains genetic-tolerance domain-homology pathogenicity pathogenic-variants variant-annotations variant-interpretation gene-annotation protein-annotation
Language:Python 6
LOVDnl / LOVDplus
LOVD+ -- LOVD for diagnostics: analysis of whole-exome data using LOVD.
lovd ngs ngs-analysis variant-analysis variant-interpretation whole-exome-sequencing
Language:PHP 4
GeneGee / explanation-of-variants
Aid for explanation of genetic variants in human
acmg genetic variant-interpretation hereditary
Language:Python 0
ahwagner / pymvld
A Python implementation of the Minimum Variant Level Data standard
genomics standards variant-interpretation
Language:Python

variant-interpretation

sigven / pcgr

brentp / slivar

molgenis / vip

WGLab / PhenoSV

AMSSwanglab / SpecVar

AMSSwanglab / hReg-CNCC

cmbi / metadome

LOVDnl / LOVDplus

GeneGee / explanation-of-variants

ahwagner / pymvld