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.

GUANinE Benchmark Dataset and Tools

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

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

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

ACMG Assistant is a student-level, research-oriented variant classification tool developed to explore the practical application of ACMG/AMP 2015 and 2023 guidelines. It combines automated retrieval of annotation data from public APIs with structured interactive evidence collection to support systematic variant interpretation.

Segregation analysis for clinical variant interpretation

Aid for explanation of genetic variants in human

GWAS locus visualization and functional annotation workflows for variant interpretation.

A Python implementation of the Minimum Variant Level Data standard

Oncology-focused variant prioritization pipeline for VEP-annotated VCF files derived from clinical NGS data.