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One framework for variant analysis

Altar connects genomic variants to model scores and reference evidence without tying an analysis to one model, database, or compute provider.

What Altar provides

  • Canonical variants


    Read and validate VCF or TSV variants once. Model bindings and evidence sources consume the same assembly-aware representation.

  • Comparable model results


    Each model declares its score fields and interpretation. Results remain attributable to the exact model instance that produced them.

  • Reference evidence


    Join precomputed scores, annotations, and variant-to-gene relations without pretending every dataset is an executable model.

  • Portable execution


    A model binding creates backend-neutral work. Run it locally, on Kubernetes, on Modal, or with your own execution implementation.

The analysis Altar represents

variants
   ├── executable models ──► scores ───────────────┐
   ├── annotation sources ─► reference fields ────┼─► variant results
   └── relation sources ───► variant–gene links ──┘

A variant result preserves the contributions of every model and evidence source. A configurable rule may also mark the variant as prioritized. That flag means a declared rule matched; it does not mean the variant is pathogenic, causal, clinically significant, or statistically significant.

Framework, bindings, and runtimes

Altar is maintained as a monorepo with independently installable parts:

Part Responsibility Examples
altar Stable interfaces, canonical variant processing, orchestration primitives, reference implementations model plans, score stores, annotation sources, conformance suites
bindings Scientific interpretation for one model, dataset, or service Cherimoya, GPN-Star, SpliceAI, AlphaMissense, Open Targets E2G
runtimes Heavy or conflicting execution environments TensorFlow ChromBPNet, PyTorch Cherimoya, containerized variant processing

This separation lets a binding remain lightweight while its runtime carries model frameworks, weights, and GPU requirements.

Choose your path

Project status

Altar is pre-1.0. The documented façade modules are compatibility-controlled; experimental namespaces and implementation paths may change. See the compatibility policy.