# Project State

## Project Reference

See: .planning/PROJECT.md (updated 2026-02-11)

**Core value:** Produce a high-confidence, multi-evidence-backed ranked list of under-studied cilia/Usher candidate genes that is fully traceable — every gene's inclusion is explainable by specific evidence, and every gap is documented.
**Current focus:** Phase 1 complete — ready for Phase 2

## Current Position

Phase: 2 of 6 (Prototype Evidence Layer)
Plan: 1 of 2 in current phase
Status: In progress
Last activity: 2026-02-11 — Completed 02-01: gnomAD constraint data pipeline (fetch->filter->normalize pattern established)

Progress: [█████░░░░░] 20.8% (1/6 phases complete, 1/2 plans in phase 2 complete)

## Performance Metrics

**Velocity:**
- Total plans completed: 5
- Average duration: 3.6 min
- Total execution time: 0.30 hours

**By Phase:**

| Phase | Plans | Total | Avg/Plan |
|-------|-------|-------|----------|
| 01 - Data Infrastructure | 4/4 | 14 min | 3.5 min/plan |
| 02 - Prototype Evidence Layer | 1/2 | 4 min | 4.0 min/plan |

## Accumulated Context

### Decisions

Decisions are logged in PROJECT.md Key Decisions table.
Recent decisions affecting current work:

- Python over R/Bioconductor for rich data integration ecosystem
- Weighted rule-based scoring over ML for explainability
- Public data only for reproducibility
- Modular CLI scripts for flexibility during development
- Virtual environment required for dependency isolation (01-01: PEP 668 externally-managed Python)
- Auto-creation of directories on config load (01-01: data_dir, cache_dir field validators)
- [01-02]: Warn on gene count outside 19k-22k range but don't fail (allows for Ensembl version variations)
- [01-02]: HGNC success rate is primary validation gate (UniProt mapping tracked but not used for pass/fail)
- [01-02]: Take first UniProt accession when multiple exist (simplifies data model)
- [01-02]: Mock mygene in tests (avoids rate limits, ensures reproducibility)
- [01-03]: DuckDB over SQLite for DataFrame storage (native polars/pandas integration, better analytics)
- [01-03]: Provenance sidecar files alongside outputs (co-located metadata, bioinformatics standard pattern)
- [01-04]: Click for CLI framework (standard Python CLI library with excellent UX)
- [01-04]: Setup command uses checkpoint-restart pattern (gene universe fetch can take minutes)
- [01-04]: Mock mygene in integration tests (avoids external API dependency, reproducible)
- [02-01]: httpx over requests for streaming downloads (async-native, cleaner API)
- [02-01]: structlog for structured logging (JSON-formatted, context-aware)
- [02-01]: LOEUF normalization with inversion (lower LOEUF = more constrained = higher 0-1 score)
- [02-01]: Quality flags instead of filtering (preserve all genes with measured/incomplete_coverage/no_data categorization)
- [02-01]: NULL preservation pattern (unknown constraint != zero constraint, must not be conflated)
- [02-01]: Lazy polars evaluation (LazyFrame until final collect() for query optimization)

### Pending Todos

None yet.

### Blockers/Concerns

None yet.

## Session Continuity

Last session: 2026-02-11 - Plan execution
Stopped at: Completed 02-01-PLAN.md (gnomAD constraint data pipeline)
Resume file: .planning/phases/02-prototype-evidence-layer/02-01-SUMMARY.md