OpenSpliceAI v0.0.7
New features
variant --batch-size/-b— batched inference on PyTorch models for large speedups on many-variant VCFs (buffers records and deduplicates the shared reference window across a position's alternate alleles). The default (1) preserves the exact original per-variant path bit-for-bit. Tunables:OSAI_CUDNN_BENCH(cuDNN autotune) andOSAI_TF32(A100 TF32 fast path; setOSAI_TF32=0for bit-reproducible output).predict --gene-flank— with-a/--annotation, include real genomic flanking sequence on each side of every extracted gene so the model sees true context instead ofNpadding at gene boundaries (default-1→flanking_size/2;0= legacy bare-gene body).predictnow also warns on sequences shorter than the model's required context and clarifies strand handling when no annotation is given (closes #16).
Packaging & distribution
- Now installable from Bioconda:
conda install -c conda-forge -c bioconda openspliceai. - Corrected the conda recipe to GPL-3.0 built from the PyPI source tarball + checksum, added GPLv3 license metadata and trove classifiers to
setup.py, and pruned three unused dependencies (torchaudio,torchvision,matplotlib-inline).
Bug fixes
variant: the reference one-hot encoder now folds every non-ACGT base (N, IUPAC ambiguity codes, gaps) to the all-zero row per its documented contract. ACGTN reference sequence is encoded bit-identically, so real-genome scores are unchanged.predict: fixed anAttributeErrorcrash in theneg_strandsreverse-complement path ofget_sequences.
Testing & quality
- Expanded the pytest suite to ~300 tests at ~96% line coverage of the packaged pipeline, with characterization tests locking the cross-subcommand hyperparameter table, encode↔decode round-trips, and batched-vs-sequential variant equivalence. Added a one-command reproducible test entrypoint (
Makefile) with a coverage-floor gate.
Install: pip install openspliceai==0.0.7 · PyPI: https://pypi.org/project/openspliceai/0.0.7/ · Docs: https://ccb.jhu.edu/openspliceai/