Datasets:
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README.md
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@@ -47,7 +47,7 @@ Code to fine-tune and evaluate models on this dataset using the Hugging Face Tra
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- **Exome-Specific Regions**: Filter the variants to include only those located in exome-specific regions (GENCODE v.38).
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### Sequence Generation
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- **Human Reference Genome (HRG, GRCh38)**: For each variant, generate input sequences from the HRG using
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- **Sequence Length**: The length of the sequences is a parameter, typically set to 100 base pairs (bp).
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- **Variant Positioning**: The variant is centered within the sequence, which is read in from a FASTA file.
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@@ -208,11 +208,11 @@ If you find our work valuable, please consider giving the project a star and cit
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```bib
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@article{ExomeBench,
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DOI={
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title={Introducing
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author={Ayanian, Shant
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year={2025},
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journal={
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}
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```
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Thank you for your support!
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- **Exome-Specific Regions**: Filter the variants to include only those located in exome-specific regions (GENCODE v.38).
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### Sequence Generation
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- **Human Reference Genome (HRG, GRCh38)**: For each variant, generate input sequences from the HRG using the variants from the ClinVar database.
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- **Sequence Length**: The length of the sequences is a parameter, typically set to 100 base pairs (bp).
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- **Variant Positioning**: The variant is centered within the sequence, which is read in from a FASTA file.
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```bib
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@article{ExomeBench,
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DOI={https://doi.org/10.1093/bib/bbaf618},
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title={Introducing a foundational sequence transformer for range adaptive nucleotide decoding (STRAND)},
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author={Ayanian, Shant et al.},
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year={2025},
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journal={Briefings in Bioinformatics, Volume 26, Issue 6}
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}
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```
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Thank you for your support!
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