Datasets:
docs(readme): fix wording, adding versions, consistency with GitHub readme
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chemodakov-cerebras - opened
README.md
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pretty_name: ExomeBench
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size_categories:
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- 100K<n<1M
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license: cc
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task_categories:
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- text-classification
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---
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<br />
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<div align="center">
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<h1 align="center">
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<p align="center">
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<a href="https://www.researchsquare.com/article/rs-6115078/v1">
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</p>
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</div>
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This dataset provides a valuable resource for researchers and practitioners working on genetic variant analysis and its clinical implications. Exome-specific regions are critically important because they encompass all protein-coding regions of the genome, where disease-associated variants are most likely to occur. By focusing on exome-specific regions and using sequences from the Human Reference Genome, this dataset enables robust evaluation of models on clinically significant tasks.
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## Dataset Details
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1. **Source**: Variants are sourced from the ClinVar database.
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2. **Clinical Significance**: ClinVar provides detailed information on the clinical significance of each variant and its association with human diseases.
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##
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###
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###
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Each dataset entry consists of two main fields:
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- `sequence` (str): A DNA sequence centered around the variant.
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- `label` (int): Task-specific integer-encoded class index.
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##
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ExomeBench includes **five**, each framed as a classification problem:
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Classify exome variants into four clinical significance categories: *pathogenic*, *likely pathogenic*, *likely benign*, or *benign*. Variants from the same gene are split across train/test to prevent leakage.
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- **Cancer-Predisposing Syndrome (CPS)**: Determine if a variant is linked to Hereditary Cancer-Predisposing Syndrome.
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- **Cardiovascular Phenotype (CP)**: Predict whether a variant is associated with cardiovascular conditions.
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- **BRCA Classification (BRCA)**: Identify whether a variant belongs to *BRCA1*, *BRCA2*, or neither.
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- **Top 5 Genes Prediction (TFG)**: Classify a variant into one of the five most frequently represented genes in the dataset.
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<div align="center">
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<table border="1" cellspacing="0" cellpadding="8">
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</thead>
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<tbody>
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<tr>
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<td>
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<td align="center">4</td>
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<td align="center">85503</td>
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<td align="center">9340</td>
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</div>
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##
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```python
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from datasets import load_dataset
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# One of:
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# [
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# 'brca',
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# 'cancer_predisposing_syndrome',
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# 'cardiovascular_phenotype',
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# 'pathogenic_variant',
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# 'top_five_genes'
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# ]
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task_name = "brca"
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dataset = load_dataset("cerebras/exome_bench", data_dir=task_name)
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# dataset['train'], dataset['validation'], dataset['test']
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```
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## SOTA Model Evaluations
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<div align="center">
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</div>
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## Citation
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This benchmark was developed as part of the efforts supporting the paper:
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`Introducing STRAND: A Foundational Sequence Transformer for Range Adaptive Nucleotide Decoding` in
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If you find our work valuable, please consider giving the project a star and citing it in your research:
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```bib
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@article{ExomeBench,
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DOI={10.2139/ssrn.5183178},
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title={Introducing
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author={Ayanian, Shant and Osborne, Andrew and Xu, Clark and Molnar, Carl and Das, Pravat and Perez, Xoab and Natalia, Vassilieva and Pondenkandath, Vinay and Kanakiya, Bhargav and Venkatesh, Ganesh and et al.},
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year={2025},
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journal={Research Square Pre-print}
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## Dataset Card Contact
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- **Curated by:** Cerebras Systems in
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- **Language(s) (NLP):** Python
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- **License:** Creative Commons Attribution 4.0: `cc-by-4.0`
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pretty_name: ExomeBench
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size_categories:
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- 100K<n<1M
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license: cc-by-nc-4.0
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task_categories:
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- text-classification
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---
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<br />
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<div align="center">
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<h1 align="center">ExomeBench: A Benchmark for Clinical Variant Interpretation in Exome Regions 🧬</h1>
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<p align="center">
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<a href="https://www.researchsquare.com/article/rs-6115078/v1">
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</p>
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</div>
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## 1. Project Overview
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The **ExomeBench** dataset is derived from [ClinVar](https://www.ncbi.nlm.nih.gov/clinvar) [(March 2024 release)](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/), a publicly accessible database maintained by the National Center for Biotechnology Information (NCBI). ClinVar provides comprehensive information on the clinical significance of genetic variants and their associations with human diseases. This dataset focuses on variants located in exome-specific regions and includes input sequences generated from the [Human Reference Genome (HRG, GRCh38)](https://www.ncbi.nlm.nih.gov/datasets/genome/GCF_000001405.40/).
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This dataset provides a valuable resource for researchers and practitioners working on genetic variant analysis and its clinical implications. Exome-specific regions are critically important because they encompass all protein-coding regions of the genome, where disease-associated variants are most likely to occur. By focusing on exome-specific regions and using sequences from the Human Reference Genome, this dataset enables robust evaluation of models on clinically significant tasks.
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## 2. Dataset Details
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### Data Collection
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- **Source**: Variants are sourced from the ClinVar database.
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- **Clinical Significance**: ClinVar provides detailed information on the clinical significance of each variant and its association with human diseases.
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### Data Filtering
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- **Assertion Criteria**: We include only variants with at least one submitter providing an interpretation and satisfying the assertion criteria for reliability.
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- **Variant Type**: Only single-nucleotide variants (SNVs) are selected.
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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 genome.
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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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### Dataset Format
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Each dataset entry consists of two main fields:
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- `sequence` (str): A DNA sequence centered around the variant.
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- `label` (int): Task-specific integer-encoded class index.
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## 3. Tasks
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ExomeBench includes **five supervised tasks**, each framed as a classification problem:
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- **Pathogenic Variant Prediction (PV)**
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Classify exome variants into four clinical significance categories: *pathogenic*, *likely pathogenic*, *likely benign*, or *benign*. Variants from the same gene are split across train/test to prevent leakage.
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- **Phenotype Association**
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- **Cancer-Predisposing Syndrome (CPS)**: Determine if a variant is linked to Hereditary Cancer-Predisposing Syndrome.
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- **Cardiovascular Phenotype (CP)**: Predict whether a variant is associated with cardiovascular conditions.
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- **Gene Localization**
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- **BRCA Classification (BRCA)**: Identify whether a variant belongs to *BRCA1*, *BRCA2*, or neither.
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- **Top 5 Genes Prediction (TFG)**: Classify a variant into one of the five most frequently represented genes in the dataset.
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<div align="center">
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<table border="1" cellspacing="0" cellpadding="8">
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</thead>
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<tbody>
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<tr>
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<td>Pathogenic Variant Prediction (PV)</td>
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<td align="center">4</td>
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<td align="center">85503</td>
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<td align="center">9340</td>
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</div>
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## 4. SOTA Model Performances
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<div align="center">
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</div>
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## 5. Usage
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```python
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from datasets import load_dataset
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# One of:
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# [
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# 'brca',
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# 'cancer_predisposing_syndrome',
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# 'cardiovascular_phenotype',
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# 'pathogenic_variant',
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# 'top_five_genes'
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# ]
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task_name = "brca"
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dataset = load_dataset("cerebras/exome_bench", data_dir=task_name)
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# dataset['train'], dataset['validation'], dataset['test']
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```
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## Citation
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This benchmark was developed as part of the efforts supporting the paper:
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`Introducing STRAND: A Foundational Sequence Transformer for Range Adaptive Nucleotide Decoding` in collaboration with [Mayo Clinic](https://www.mayoclinic.org/).
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If you find our work valuable, please consider giving the project a star and citing it in your research:
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```bib
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@article{ExomeBench,
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DOI={10.2139/ssrn.5183178},
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title={Introducing STRAND: A Foundational Sequence Transformer for Range Adaptive Nucleotide Decoding},
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author={Ayanian, Shant and Osborne, Andrew and Xu, Clark and Molnar, Carl and Das, Pravat and Perez, Xoab and Natalia, Vassilieva and Pondenkandath, Vinay and Kanakiya, Bhargav and Venkatesh, Ganesh and et al.},
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year={2025},
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journal={Research Square Pre-print}
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## Dataset Card Contact
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Corresponding email: exome-bench@cerebras.net
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- **Curated by:** Cerebras Systems in collaboration with Mayo Clinic
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- **Language(s) (NLP):** Python
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- **License:** Creative Commons Attribution-NonCommercial 4.0 International: `cc-by-nc-4.0`
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