Ancestry-aware variant interpretation
Deterministic ACMG/AMP engines that ask whether evidence is strong enough for a given ancestry — exposing gaps Western-centric databases hide.
Independent Computational Laboratory · Istanbul
Mechanistic AI for the variants and tumours others overlook.
We turn genomic data into evidence-informed therapeutic hypotheses — ancestry-aware variant interpretation and single-cell analysis of rare cancers, released as open-source tools.
0false-benign calls across 1,277 known-pathogenic variants
9,534germline VUS reclassified in ATM & PALB2
9,157TBXT+ chordoma cells profiled at single-cell resolution
Research programmes
Models that explain the biological why.
Rather than treating models as black boxes, we build mechanistic AI and validate it against biological and clinical evidence — with a focus on rare and neglected entities. Where AI touches a clinical call, a deterministic engine decides and the model's reasoning stays auditable.
Single-cell biology of rare tumours
Single-cell analysis of chordoma is surfacing phenotypes invisible to conventional metrics — from tumour heterogeneity to ferroptosis vulnerabilities.
Safe-by-Design toxicity prediction
A hybrid Mixture-of-Experts pairing random forests with graph neural networks, designed to fail safely under data scarcity.
Featured finding · 2026
The inverse entropy paradox in chordoma.
- Finding
- Tumour cell populations that are individually diverse yet collectively disciplined.
- Method
- msep pairs per-cell entropy with across-cell variation, pathway by pathway.
- Data
- Sacral chordoma scRNA-seq (Arrieta et al., Neuro-Oncology, 2025).
Open tools
Software we build and ship.
VUS Lens audits the evidence; VUS Pipeline classifies for the tumour board. msep is method-agnostic and works on any cellular system, and HybridTox fails safely on scaffolds it has never seen.
Python package · scRNA-seq
msep
Multi-scale entropy profiling — pathway-decomposed, any cellular system.
pip install msep
GitHub →
Clinical decision support
VUS Lens
Ancestry-aware ACMG interpretation. 0 false-benign across 1,277 variants.
Clinical variant analysis
VUS Pipeline
Deterministic ACMG/AMP classification for molecular tumour boards.
AI-Driven Reclassification of 9,534 VUS in ATM & PALB2
Surfacing actionable targets for PARP-inhibitor therapy.
Abstract (PDF) →
Ferroptosis Resistance in Chordoma at Single-Cell Resolution
Extreme GPX4 dependency and a dormant SREBF1–ACSL4 axis.
Abstract →
The Inverse Entropy Paradox in Chordoma
Individually diverse, collectively disciplined tumour cells.
Read →
VUS Lens — Built with Claude
Open source, and live for researchers to use and audit.
Live tool →