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Coverage-model outer validation: 2026-07-19

This evaluation freezes all adaptive parameters from the preceding development stage. No model choice, weight, prior grid, support scale, fold count, or Bayes factor was changed after observing these samples.

The machine-readable sample manifest is benchmarks/coverage_outer_holdouts.tsv, and scripts/run_coverage_panel.sh runs the five coverage modes on a reusable name-sorted BAM while reporting coverage and EM wall times.

Degradation series

The public PRJEB53210 degradation experiment contains matched ONT direct-RNA degradation trajectories with measured RNA integrity. The study reports pervasive length- and isoform-dependent effects of degradation, so the low-RIN sample is not assumed to have identical biological truth to its high-RIN starting point. Instead, this test asks whether a coverage model introduces an unusually large additional distribution shift.

Fixed 50,000-read prefixes were evaluated within TS10 (RIN 9.8 versus 7.7) and TS12 (RIN 9.9 versus 7.2/7.3). Estimates were normalized to proportions and compared with scripts/evaluate_pair.py.

Trajectory Model Pearson Jensen-Shannon divergence L1 distance
TS10 none 0.9662 0.1415 0.6463
TS10 endpoint 0.9610 0.1572 0.6892
TS10 hybrid 0.9598 0.1618 0.6986
TS10 adaptive 0.9542 0.1594 0.6825
TS12, RIN 7.2 none 0.9468 0.1298 0.6313
TS12, RIN 7.2 endpoint 0.9098 0.1662 0.7354
TS12, RIN 7.2 hybrid 0.9147 0.1662 0.7356
TS12, RIN 7.2 adaptive 0.9196 0.1538 0.6824
TS12, RIN 7.3 none 0.9378 0.1283 0.6155
TS12, RIN 7.3 endpoint 0.9022 0.1625 0.7118
TS12, RIN 7.3 hybrid 0.9058 0.1651 0.7170
TS12, RIN 7.3 adaptive 0.9118 0.1537 0.6698

Adaptive consistently moderates the shift caused by endpoint/hybrid evidence in TS12, but it does not recover the neutral model's cross-RIN stability. TS10 is less favorable. Because degradation genuinely changes observed molecule abundance, these distances are a robustness diagnostic rather than accuracy scores. They nevertheless argue against enabling coverage correction by default on low-RIN samples.

Across six degradation samples, mean coverage/EM times were:

Model Coverage EM
none <0.001 ms 1.194 s
endpoint 7.43 ms 1.212 s
hybrid 34.99 ms 1.193 s
adaptive 41.83 ms 1.205 s

Adaptive mean reliability was 0.604 and all samples again selected prior mass 10.

PacBio and non-SIRV biological expression

LongBench supplies matched PacBio Kinnex, ONT, and Illumina data from lung-cancer cell lines, with Sequins and SIRV controls. We evaluated a fixed 50,000-read prefix of H69 PacBio Kinnex against its matched Illumina transcript estimates. This is a deliberately imperfect external comparator, not molecular truth. Metrics below use the 251,488 transcript identifiers shared after version removal between the public matrix and the GENCODE v47 reference.

Model CCC Pearson RMSE Coverage time EM time
none 0.5152 0.5680 3218.7 <0.001 ms 1.063 s
endpoint 0.5772 0.6201 2871.2 6.09 ms 1.097 s
hybrid 0.5393 0.5907 3102.4 34.24 ms 1.106 s
adaptive 0.5528 0.6012 3019.0 39.97 ms 1.095 s

Endpoint and adaptive both improve agreement over no coverage on this first PacBio holdout. Adaptive is again intermediate between neutral and endpoint, with mean reliability 0.706 and 7,610 reads reaching the Bayes-factor cap.

Decision

  • Keep adaptive opt-in. It transfers positively to PacBio, but degradation remains a credible failure mode for all coverage corrections.
  • Surface the adaptive diagnostics in downstream QC. A low-RIN warning cannot be inferred reliably from alignments alone yet, so oarfish should not silently disable correction without sample metadata.
  • Expand LongBench to all eight cell lines and use matched Illumina as an external endpoint. This expansion is now complete in the LongBench coverage evaluation; dedicated Sequin/SIRV truth remains future work.
  • For parameter learning, use leave-one-sample-out or leave-one-cell-line-out outer folds. Never split reads from the same library across the outer train and test partitions.

Artifacts are under /scratch1/rob/long-read-ecosystem/oarfish-evaluation-data/degradation and /scratch1/rob/long-read-ecosystem/oarfish-evaluation-data/longbench.