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Analysis Workflows

End-to-end, multi-stage workflows that string the individual layers of Agentic-SpliceAI into a single runnable pipeline.

Meta-Layer MLOps (M1-S / M2-S / M3)

The Meta-Layer MLOps Workflow is the golden path for the sequence-level meta-models — from raw GTF/FASTA to a promoted, evaluated checkpoint:

  1. Data Preparation — GTF/FASTA → splice-site labels
  2. Base Scoring — OpenSpliceAI per-nucleotide predictions
  3. Feature Engineering — the 9-modality feature stack
  4. Training M1-S and M2-S
  5. Evaluation — meta-vs-base, canonical and alternative sites
  6. Reporting & Promotion — results, provenance, canonical registry
  7. GPU Pods — running it all at genome scale on RunPod

M3 (novel sites) reuses Stages 1–3, then branches into its own sub-series — novel sites have no annotation to label against, so they need separate label curation and an anti-circular evaluation:

  1. M3 Label Curation — junctions, long-read, disease catalogs
  2. M3 Training — recognizer (M3-S) and candidate refiner (M3-R)
  3. M3 Evaluation — per-gene precision@k against independent truth

Planned

  • Variant impact assessment
  • Agentic validation of M3 novel-site candidates (literature, expression, conservation)