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| license: mit | |
| tags: | |
| - dna | |
| - genomics | |
| - tokenization | |
| task_categories: | |
| - other | |
| # EvoLen — token analysis input data | |
| Derived interval files needed to reproduce the token analyses in Section 4 of | |
| *EvoLen: Evolution-Guided Tokenization for DNA Language Model* | |
| ([arXiv:2604.08698](https://arxiv.org/abs/2604.08698)). | |
| Analysis code lives in the [`evolen` repository](https://github.com/mtapia-pacheco/evolen) | |
| under `analysis/`. | |
| ## Contents | |
| ```text | |
| region_beds/ | |
| source/ INPUT to the P4 enrichment analysis -- the four genomic | |
| regions, merged and cleaned: | |
| promoters_2kb.clean.merged.bed (28,251 intervals) | |
| enhancers_dels.clean.merged.bed (1,464,531) | |
| exon.clean.merged.bed (402,955) | |
| intron.clean.merged.bed (150,128) | |
| conservation_crossed/ OUTPUT of that analysis, provided for checking: the four | |
| regions crossed with conservation category | |
| {promoter,enhancer,exon,intron}_{conserved,neutral,accelerated}.bed | |
| conservation_{conserved,neutral,accelerated}.bed | |
| simple/ the same four regions without the conservation split | |
| ccre_classes/ ENCODE SCREEN cCRE classes as BED, one file per class | |
| CA, CA-CTCF, CA-H3K4me3, CA-TF, PLS, TF, dELS, pELS | |
| *_balanced.bed are downsampled to the smallest class (26,102) | |
| motifs/motifs.txt JASPAR 2024 vertebrate motifs, thresholded to consensus | |
| sequences (PWM positions at 0.5, wildcards trimmed, <= 12 bp) | |
| ``` | |
| `region_beds/source/` is what `analysis/enrichment/enrichment_heatmap.py` reads; it | |
| generates the conservation split and the crossed BEDs itself, so | |
| `region_beds/conservation_crossed/` is included only so results can be compared without | |
| re-running. `ccre_classes/` backs the Multi-SCREEN task construction; `motifs/` backs the | |
| P1 motif preservation analysis (Figure 2A). | |
| ## Not included — fetch these yourself | |
| Two inputs are public reference data and are not mirrored here. | |
| **hg38 reference genome** (~3.3 GB): | |
| ```bash | |
| wget https://hgdownload.soe.ucsc.edu/goldenPath/hg38/bigZips/hg38.fa.gz | |
| gunzip hg38.fa.gz && samtools faidx hg38.fa | |
| ``` | |
| **phyloP conservation scores.** The analysis reads per-chromosome bedGraph, which is a | |
| mechanical conversion of the public bigWig (~70 GB expanded, so it is regenerated rather | |
| than distributed): | |
| ```bash | |
| wget https://hgdownload.soe.ucsc.edu/goldenPath/hg38/phyloP100way/hg38.phyloP100way.bw | |
| # convert per chromosome with UCSC bigWigToBedGraph | |
| bigWigToBedGraph -chrom=chr1 hg38.phyloP100way.bw chr1.bedGraph | |
| ``` | |
| Point `process_bedgraph_all.py --bedgraph_dir` at the directory of resulting | |
| `.bedGraph` files to produce the `{chrom}_phylop_segment.csv` files that drive both | |
| tokenizer construction and the phyloP analyses. | |
| ## Usage | |
| ```bash | |
| export EVOLEN_ROOT=/path/to/your/data_root # analysis scripts resolve paths from this | |
| ``` | |
| Related: [token_evaluation](https://huggingface.co/datasets/nancyH/token_evaluation) | |
| hosts the phyloP analysis *outputs* (per-token aggregates used for Figure 2C). |