--- pretty_name: "GAMBA Functional Regions: Feature vs Category-Matched Random" license: other tags: - biology - genomics - dna - regulatory-genomics - genome-language-model - benchmark - hg38 - parquet configs: - config_name: causal data_files: - split: all path: functional-random-gamba-causal.parquet - config_name: bidi data_files: - split: all path: functional-random-gamba-bidi.parquet --- # GAMBA Functional Regions: Feature vs Category-Matched Random This paired binary representation benchmark asks whether a model can distinguish an annotated functional region from a chromosome- and length-matched random control. For this dataset, a random control avoids retained anchors from the **same functional category**. It may overlap annotations from other categories. Use the annotation-free random dataset if controls must avoid every retained annotation category. Each feature/control pair shares `pair_id`. ## Loading ```python from datasets import load_dataset bidi = load_dataset( "Taykhoom/functional-random-gamba", "bidi", split="all", ) paper_test = bidi.filter( lambda row: row["split"] == "test" and row["category"] != "noncoding_regions" ) ``` ## Dataset size and splits | Scope | Rows | Held-out `test` rows | |---|---:|---:| | Complete release | 188,568 | 37,832 | | Corrected paper categories | 169,682 | 33,984 | Labels are balanced: 94,284 `feature` and 94,284 `random` rows. Rows on `chr2`, `chr3`, `chr16`, and `chr22` are marked `test`; remaining included chromosomes are `train`. The Hugging Face split `all` loads the whole physical file. ## Categories The complete release contains 94,284 source features across: ```text repeats, UCNE, vista_enhancer, promoters, UTR5, UTR3, coding_regions, exons, introns, upstream_TSS, noncoding_regions ``` `category != "noncoding_regions"` yields the corrected ten-category paper view. `repeat_class` is populated on the 19,982 repeat-derived rows (feature and matched control). ## Context configurations | Config | Geometry | |---|---| | `causal` | ROI end-anchored after strand orientation for autoregressive models. | | `bidi` | ROI centered for bidirectional/masked models. | All sequences are 2,048 bp and use uppercase hg38 bases. ## Evaluation For the paper protocol: 1. filter `split == "test"`; 2. exclude `category == "noncoding_regions"`; 3. pool each representation over `[pool_start_in_window, pool_end_in_window)`; 4. evaluate cosine leave-one-out 1-nearest-neighbor balanced accuracy. ## Columns | Column group | Description | |---|---| | `split`, `sequence`, `label`, `pair_id` | Chromosome partition, exact input, `feature`/`random` class, and matched pair. | | `category`, `repeat_class`, `scope` | Source category, nullable repeat class, and `full` scope. | | `context_policy` | `causal` or `symmetric`. | | `chrom`, `start`, `end`, `source_strand` | Zero-based, half-open hg38 coordinates and biological strand (`.` means unknown). | | `sequence_orientation` | Explicit `+`/`-` orientation used for sequence geometry and reverse complementation. | | `context_start`, `context_end` | Forward-genome sequence context coordinates. | | `roi_start`, `roi_end` | Feature/control offsets inside oriented `sequence`. | | `pool_start_in_window`, `pool_end_in_window` | Evaluation pooling offsets. | | `name` | Source/control identifier. | | `phylop_*`, `phylop_context_*` | Six ROI and six symmetric-context float32 phyloP summaries. | ## Corrected repeat processing RepeatMasker genomic strand and repeat class are separate fields. The release uses UCSC `rmsk` field 9 as `source_strand`, field 11 as `repeat_class`, and rebuilds repeat-derived controls and sequence orientation. Labels remain unchanged. Published pair identities and deterministic 100 bp selections for unaffected features are preserved. Release `repeat-strand-v2` restores the pinned paper control coordinates for every unaffected category; only repeat controls are regenerated with keyed RNG. ## Processing and citation Processing and verification: https://github.com/TaykhoomDalal/Gamba-Processing/commit/549985683a1c52014a64c5781937dd25360f1553 Consens, M. E. et al. *Predicting evolutionary rate as a pretraining task improves genome language model representations*. bioRxiv (2026). https://doi.org/10.64898/2026.02.02.703275 ## License The processing code derived from GAMBA is MIT licensed under the processing repository's `LICENSE`. This generated dataset is marked `other`: incorporated reference sequence, annotations, and phyloP-derived values retain their upstream terms, so no blanket MIT license is asserted for the Parquets.