Personal Cancer Genome Reporter (PCGR)

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

Variant Interpretation Pipeline

API-first variant triage pipeline combining genomic filtering, annotation, and LLM-driven interpretation for clinical genomics workflows

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.

Local-first DNA and VCF analysis copilot for evidence-bound genomics workflows, confidence tiers, and Claude/Codex support.

Segregation analysis for clinical variant interpretation

Genetik varyantların patojenite analizini; XGBoost, GNN ve Transformer tabanlı hibrit bir "Stacking Ensemble" mimarisi ile gerçekleştiren; biyoinformatik temelli, açıklanabilir (XAI) klinik karar destek sistemi.

LLM-based variant interpretation platform built on open-source APIs' integration

ML + LLM pipeline for genetic variant pathogenicity prediction (AUC 0.9949, 1.69M ClinVar variants) with SHAP explainability and clinical report generation via Llama 3 / Claude

Five Google ADK / Agent Builder agents watching genomic evidence (ClinVar, gnomAD, AlphaMissense) synced via the Fivetran MCP and, the moment a Variant of Uncertain Significance is reclassified, recompute a calibrated ACMG posterior to draft the patient recontact + family cascade no system sends today. Draft-only, FHIR R4, human-in-the-loop.

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.

Agentic clinical variant interpretation copilot: drafts ACMG/AMP classifications with cited evidence, evaluated against ClinVar gold labels. RAG + LLM eval + LLMOps.