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.

Drafts ACMG/AMP variant classifications for a human curator: gathers genomics evidence, adjudicates each criterion with Claude, computes the label in code via ClinGen points, and shows every source.

Ancestry allele frequencies, LoF constraint, variant lists, and coverage from gnomAD, joined with ClinVar clinical significance - via MCP. STDIO or Streamable HTTP.

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

MCP gateway federating 21 biomedical MCP servers — gnomAD, ClinVar, HPO, UniProt, Ensembl VEP, PanelApp and more — behind one Streamable-HTTP endpoint, with collision-free namespaced tools and BM25 tool search.

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.

Structure-based pathogenicity prediction for in-frame indels (1–10 aa), mapped to ACMG/AMP evidence.