Personal Cancer Genome Reporter (PCGR)

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

Variant Interpretation Pipeline

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

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.

SpecVar is a convenient tool for estimating interpretable genetic correlation of human complex traits and annotating the SNPs with context specific regulatory networks

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

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

🧬 Comprehensive ACMG/AMP variant classification tool implementing all 28 evidence criteria (2015 & 2023 guidelines). Interactive CLI with API integrations, automated reporting, and support for clinical research workflows.

A Python implementation of the Minimum Variant Level Data standard

Aid for explanation of genetic variants in human