Projects in Awesome Lists tagged with variant-interpretation

A curated list of projects in awesome lists tagged with variant-interpretation .

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https://github.com/sigven/pcgr

Personal Cancer Genome Reporter (PCGR)

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

Last synced: 27 Feb 2026

https://github.com/brentp/slivar

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

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

Last synced: 26 Jan 2026

https://github.com/molgenis/vip

Variant Interpretation Pipeline

genetics pipeline variant-interpretation

Last synced: 10 Apr 2025

https://github.com/wglab/phenosv

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

phenotyping structural-variants transformer variant-interpretation

Last synced: 17 Jan 2026

https://github.com/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.

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