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Add Torino module for annotation-free isoform quantification - #1438
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New isoform_calling_torino.ipynb with workflows torino (coverage, per-gene depth matrices, factorization, usage tables) and torino_preprocessing. R/bash wrappers in code/script/molecular_phenotypes/calling, a simulated 24-sample chr22 fixture with its build script, and tests.
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Adds
isoform_calling_torino.ipynb, which quantifies isoform usage with Torino (Buen Abad Najar et al., 2026, bioRxiv 10.64898/2026.10.21.760529). Torino factorizes each gene's read-depth matrix across samples by empirical Bayes Poisson matrix factorization into coverage components and their per-sample usage, without transcript annotations. It therefore captures intron retention and alternative polyadenylation, which junction-based LeafCutter2 does not quantify.torino(coverage, per-gene depth matrices, factorization, usage tables) andtorino_preprocessing(the first two steps).torino_coverage.sh,torino_count_matrix.R,torino_factorize.Randtorino_usage.Rincode/script/molecular_phenotypes/calling/, replacing the paper pipeline's Python and positional-argument scripts.QQNorm_factors.py) and a phenotype-group file for TensorQTL grouped permutation.build_fixture.R.tests/notebooks/molecular_phenotypes/calling/test_isoform_calling_torino.py.All 8 tests passed on SCC. On the fixture, component usage correlated with the simulated fully spliced, alternative-last-exon and intron-retention transcripts at 0.98, 0.99 and 0.99. The end-to-end test is skipped where the torino R package is not installed; its GitHub-only dependencies (torino, fastTopics, smashrgen, ebpm, vebpm, and mr.ash at
a8d0b23) are not yet in the dnachun channel.