rewirebio.iobenchmarks
Protocol

Recovery of known expression-outlier genes and outlier calls in true-negative samples, patient RNA-seq (Silverstein et al. Table S9, OUTRIDER)

OUTRIDER with and without 100 GTEx muscle controls, scored on known loss-of-function expression genes and on true-negative samples.

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Protocol coverage CSV (gzip) · Model evaluation matrix (gzip) · Source table (gzip) · Release and checksums (gzip)

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Technical metadata and extraction receipts

Stable ID: rna-splicing-20261011-silverstein2026-protocol-expression

areas
rna-transcriptomes
contexts
clinical_research
protocol
Run OUTRIDER one versus all through DROP v1.2.2 at FDR 1% on each tissue cohort, and a second muscle run with 100 GTEx muscle controls added. A true positive is the known gene among reported outliers; a true-negative sample is correct only if no outlier is reported.
version
Table S9 (medRxiv v1 supplement)
source locator
Table S9 rows 7 and 8; Methods 'Expression Tools' and 'True Positive and Negative Detection'; Table S7
limitations
OUTRIDER + GTEx was run on muscle only (14 positives); OUTRIDER on muscle and fibroblast (15 positives).; The authors did not develop rMATS-turbo, MINTIE, FRASER, LeafcutterMD, OUTRIDER or the DROP MAE module. ANEVA-h is the authors' own method: two of its authors (K. R. Ganapathy and S. Silverstein) are the first and third authors of reference 36, the ANEVA-h preprint, so the ANEVA-H row is recorded as author_reported.; Positives are counted per known event or gene, negatives per true-negative sample: a negative sample with any reported outlier counts as one false positive. Accuracy, precision and MCC therefore mix event-level and sample-level units (Methods 'True Positive and Negative Detection').; Variants with clinically interpretable mechanisms were selected; the authors state this favours clearly defined events and likely underestimates tool sensitivity, and that binary outlier scoring of negatives may overestimate false-positive rates and lowers MCC (Discussion, limitations paragraph).; Retrospective study of a single centre's neuromuscular cohort; no confidence intervals are printed.; Table S7 true-negative rows do not reproduce Table S9 rows 7 and 8: read as in Tables S3, S4 and S8 ('YES' = no outlier), Table S7 gives OUTRIDER 8 of 9 negative samples without outliers (Table S9: 4) and OUTRIDER + GTEx 1 of 6 (Table S9: 1 of 5). The prose rates (56% and 83%) match Table S9 for OUTRIDER and Table S7 for OUTRIDER + GTEx.
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