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variant-interpretation

Here are 10 public repositories matching this topic...

brentp / slivar

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

genomics variant-analysis rare-variant-analysis variant-interpretation rare-disease

Updated Feb 27, 2025
Nim

sigven / pcgr

Personal Cancer Genome Reporter (PCGR)

interpreter cancer clinical tumor vcf cancer-genomics reporting-engine copy-number-variation annotation-tool somatic cancer-variants annotation-framework snvs oncology-data precision-oncology variant-interpretation therapeutic-targets precision-cancer-medicine

Updated May 13, 2025
R

molgenis / vip

Variant Interpretation Pipeline

pipeline genetics variant-interpretation

Updated Jun 5, 2025
Shell

WGLab / PhenoSV

PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.

transformer phenotyping structural-variants variant-interpretation

Updated Feb 11, 2025
Python

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.

genetics proteins gene-annotation genes pathogenicity variant-annotations protein-domains pathogenic-variants protein-annotation genetic-tolerance domain-homology variant-interpretation

Updated May 15, 2025
Python

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 variant-interpretation regulatory-networks relevant-tissue phenotopic-correlation

Updated May 8, 2023
Shell

AMSSwanglab / hReg-CNCC

hReg-CNCC is a high-quality Regulatory network of Cranial Neural Crest Cell (CNCC), built by consensus optimization.

variant-interpretation consensus-optimization hreg-cncc regulatory-network-construction

Updated Aug 5, 2021
Python

LOVDnl / LOVDplus

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

ngs whole-exome-sequencing variant-analysis ngs-analysis variant-interpretation lovd

Updated Jun 4, 2024
PHP

ahwagner / pymvld

A Python implementation of the Minimum Variant Level Data standard

genomics standards variant-interpretation

Updated Aug 25, 2018
Python

GeneGee / explanation-of-variants

Aid for explanation of genetic variants in human

genetic acmg variant-interpretation hereditary

Updated Aug 27, 2018
Python

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