| --- |
| license: mit |
| tags: |
| - dna |
| - genomics |
| - tokenization |
| --- |
| |
| # 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). |
|
|