Add dataset documentation
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README.md
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- name: train
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num_bytes: 16428486
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num_examples: 1000
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download_size: 5672422
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dataset_size: 16428486
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configs:
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- config_name: default
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data_files:
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- split: train
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path: data/train-*
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---
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---
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license: cc-by-4.0
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task_categories:
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- text-generation
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- token-classification
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language:
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- en
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tags:
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- genomics
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- dna
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- grch38
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- human-genome
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- evo2
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- sparse-autoencoder
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size_categories:
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- 100K<n<1M
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---
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# Human GRCh38 Genome Segments
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## Dataset Description
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This dataset contains 16,384 base pair segments from the human reference genome (GRCh38) prepared for Sparse Autoencoder (SAE) training with the Evo2 model. The segments are extracted using a sliding window approach with 75% overlap.
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## Dataset Details
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- **Total segments**: 718,648
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- **Segment size**: 16,384 base pairs
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- **Stride**: 4,096 base pairs (75% overlap)
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- **Source genome**: GRCh38.primary_assembly (GENCODE Release 41)
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- **Chromosomes**: chr1-22, chrX, chrY, plus alternative/random contigs
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- **Filtering**: Segments with >10% N-content removed
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## Data Structure
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Each segment contains:
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- `chromosome`: Chromosome identifier
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- `start`: Start position (0-based)
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- `end`: End position (exclusive)
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- `sequence`: DNA sequence (16,384 bp)
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- `strand`: Strand orientation (always "+")
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- `n_content`: Fraction of N bases (ambiguous nucleotides)
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## Usage
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```python
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from datasets import load_dataset
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# Load the dataset
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dataset = load_dataset("harari/human_grch38_segment")
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# Access a segment
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segment = dataset['train'][0]
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print(f"Chromosome: {segment['chromosome']}")
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print(f"Position: {segment['start']}-{segment['end']}")
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print(f"Sequence length: {len(segment['sequence'])}")
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```
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## Intended Use
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This dataset is designed for:
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- Training Sparse Autoencoders on genomic sequences
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- Analyzing DNA sequence patterns with foundation models
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- Genomic representation learning
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- Evo2 model feature extraction and interpretation
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## Citation
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If you use this dataset, please cite the original GRCh38 reference genome and GENCODE annotations:
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```
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@article{grch38,
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title={The reference genome sequence of the human genome},
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journal={Nature},
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year={2013}
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}
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@article{gencode,
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title={GENCODE: the reference human genome annotation},
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journal={Genome Research},
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year={2012}
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}
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```
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## Data Source
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- Reference genome: GENCODE GRCh38.p13 Release 41
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- URL: https://www.gencodegenes.org/human/release_41.html
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- Processing: Sliding window chunking with N-content filtering
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## Preprocessing
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1. Downloaded GRCh38.primary_assembly.genome.fa.gz
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2. Extracted 16,384 bp segments with 4,096 bp stride
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3. Filtered segments with >10% N-content
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4. Added genomic coordinates and metadata
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## License
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This dataset is released under CC-BY-4.0 license, consistent with the GENCODE data usage terms.
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