docs(readme): fix wording, adding versions, consistency with GitHub readme

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  1. README.md +48 -47
README.md CHANGED
@@ -7,14 +7,14 @@ tags:
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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">Exome Bench: 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">
@@ -27,51 +27,50 @@ task_categories:
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  </p>
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  </div>
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- The ExomeBench dataset is derived from ClinVar, a publicly accessible database maintained by the [National Center for Biotechnology Information (NCBI)](https://www.ncbi.nlm.nih.gov/clinvar). 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)](https://www.ncbi.nlm.nih.gov/datasets/genome/GCF_000001405.40/).
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-
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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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-
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- ## Dataset Details
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36
 
37
- #### Data Collection
38
 
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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.
41
 
42
- #### Data Filtering
43
 
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- 1. **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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- 2. **Variant Type**: Only single-nucleotide variants (SNVs) are selected.
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- 2. **Exome-Specific Regions**: Filter the variants to include only those located in exome-specific regions.
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- #### Sequence Generation
 
 
 
49
 
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- 1. **Human Reference Genome (HRG)**: For each variant, generate input sequences from the HRG using genome.
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- 2. **Sequence Length**: The length of the sequences is a parameter, typically set to 100 base pairs (bp).
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- 3. **Variant Positioning**: The variant is centered within the sequence, which is read in from a FASTA file.
 
53
 
54
- #### Dataset Format
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  Each dataset entry consists of two main fields:
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57
  - `sequence` (str): A DNA sequence centered around the variant.
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  - `label` (int): Task-specific integer-encoded class index.
59
 
60
- ### Tasks
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-
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- ExomeBench includes **five**, each framed as a classification problem:
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64
- 1. **Pathohenic 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.
66
 
67
- 2. **Phenotype Association**
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  - **Cancer-Predisposing Syndrome (CPS)**: Determine if a variant is linked to Hereditary Cancer-Predisposing Syndrome.
69
  - **Cardiovascular Phenotype (CP)**: Predict whether a variant is associated with cardiovascular conditions.
70
 
71
- 3. **Gene Localization**
72
  - **BRCA Classification (BRCA)**: Identify whether a variant belongs to *BRCA1*, *BRCA2*, or neither.
73
  - **Top 5 Genes Prediction (TFG)**: Classify a variant into one of the five most frequently represented genes in the dataset.
74
 
 
75
  <div align="center">
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  <table border="1" cellspacing="0" cellpadding="8">
@@ -89,7 +88,7 @@ ExomeBench includes **five**, each framed as a classification problem:
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  </thead>
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  <tbody>
91
  <tr>
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- <td>Pathohenic 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>
@@ -128,22 +127,7 @@ ExomeBench includes **five**, each framed as a classification problem:
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129
  </div>
130
 
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- ## 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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- ## SOTA Model Evaluations
147
 
148
  <div align="center">
149
 
@@ -176,15 +160,32 @@ dataset = load_dataset("cerebras/exome_bench", data_dir=task_name)
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  </div>
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178
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
179
  ## Citation
180
  This benchmark was developed as part of the efforts supporting the paper:
181
- `Introducing STRAND: A Foundational Sequence Transformer for Range Adaptive Nucleotide Decoding` in collabration with [Mayo Clinic](https://www.mayoclinic.org/).
182
  If you find our work valuable, please consider giving the project a star and citing it in your research:
183
 
184
  ```bib
185
  @article{ExomeBench,
186
  DOI={10.2139/ssrn.5183178},
187
- title={Introducing strand: A foundational sequence transformer for range adaptive nucleotide decoding},
188
  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}
@@ -206,8 +207,8 @@ The dataset is for research and benchmarking only; it should not be used as a st
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  ## Dataset Card Contact
208
 
209
- Correspanding email: exome-bench@cerebras.net
210
 
211
- - **Curated by:** Cerebras Systems in collabration with Mayo Clinics
212
  - **Language(s) (NLP):** Python
213
- - **License:** Creative Commons Attribution 4.0: `cc-by-4.0`
 
7
  pretty_name: ExomeBench
8
  size_categories:
9
  - 100K<n<1M
10
+ license: cc-by-nc-4.0
11
  task_categories:
12
  - text-classification
13
  ---
14
 
15
  <br />
16
  <div align="center">
17
+ <h1 align="center">ExomeBench: A Benchmark for Clinical Variant Interpretation in Exome Regions 🧬</h1>
18
 
19
  <p align="center">
20
  <a href="https://www.researchsquare.com/article/rs-6115078/v1">
 
27
  </p>
28
  </div>
29
 
30
+ ## 1. Project Overview
 
 
 
 
31
 
32
+ 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/).
33
 
34
+ 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.
35
 
 
 
36
 
37
+ ## 2. Dataset Details
38
 
39
+ ### Data Collection
40
+ - **Source**: Variants are sourced from the ClinVar database.
41
+ - **Clinical Significance**: ClinVar provides detailed information on the clinical significance of each variant and its association with human diseases.
42
 
43
+ ### Data Filtering
44
+ - **Assertion Criteria**: We include only variants with at least one submitter providing an interpretation and satisfying the assertion criteria for reliability.
45
+ - **Variant Type**: Only single-nucleotide variants (SNVs) are selected.
46
+ - **Exome-Specific Regions**: Filter the variants to include only those located in exome-specific regions (GENCODE v.38).
47
 
48
+ ### Sequence Generation
49
+ - **Human Reference Genome (HRG, GRCh38)**: For each variant, generate input sequences from the HRG using genome.
50
+ - **Sequence Length**: The length of the sequences is a parameter, typically set to 100 base pairs (bp).
51
+ - **Variant Positioning**: The variant is centered within the sequence, which is read in from a FASTA file.
52
 
53
+ ### Dataset Format
54
  Each dataset entry consists of two main fields:
55
 
56
  - `sequence` (str): A DNA sequence centered around the variant.
57
  - `label` (int): Task-specific integer-encoded class index.
58
 
59
+ ## 3. Tasks
60
+ ExomeBench includes **five supervised tasks**, each framed as a classification problem:
 
61
 
62
+ - **Pathogenic Variant Prediction (PV)**
63
  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.
64
 
65
+ - **Phenotype Association**
66
  - **Cancer-Predisposing Syndrome (CPS)**: Determine if a variant is linked to Hereditary Cancer-Predisposing Syndrome.
67
  - **Cardiovascular Phenotype (CP)**: Predict whether a variant is associated with cardiovascular conditions.
68
 
69
+ - **Gene Localization**
70
  - **BRCA Classification (BRCA)**: Identify whether a variant belongs to *BRCA1*, *BRCA2*, or neither.
71
  - **Top 5 Genes Prediction (TFG)**: Classify a variant into one of the five most frequently represented genes in the dataset.
72
 
73
+
74
  <div align="center">
75
 
76
  <table border="1" cellspacing="0" cellpadding="8">
 
88
  </thead>
89
  <tbody>
90
  <tr>
91
+ <td>Pathogenic Variant Prediction (PV)</td>
92
  <td align="center">4</td>
93
  <td align="center">85503</td>
94
  <td align="center">9340</td>
 
127
 
128
  </div>
129
 
130
+ ## 4. SOTA Model Performances
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
131
 
132
  <div align="center">
133
 
 
160
  </div>
161
 
162
 
163
+ ## 5. Usage
164
+ ```python
165
+ from datasets import load_dataset
166
+ # One of:
167
+ # [
168
+ # 'brca',
169
+ # 'cancer_predisposing_syndrome',
170
+ # 'cardiovascular_phenotype',
171
+ # 'pathogenic_variant',
172
+ # 'top_five_genes'
173
+ # ]
174
+ task_name = "brca"
175
+ dataset = load_dataset("cerebras/exome_bench", data_dir=task_name)
176
+ # dataset['train'], dataset['validation'], dataset['test']
177
+ ```
178
+
179
+
180
  ## Citation
181
  This benchmark was developed as part of the efforts supporting the paper:
182
+ `Introducing STRAND: A Foundational Sequence Transformer for Range Adaptive Nucleotide Decoding` in collaboration with [Mayo Clinic](https://www.mayoclinic.org/).
183
  If you find our work valuable, please consider giving the project a star and citing it in your research:
184
 
185
  ```bib
186
  @article{ExomeBench,
187
  DOI={10.2139/ssrn.5183178},
188
+ title={Introducing STRAND: A Foundational Sequence Transformer for Range Adaptive Nucleotide Decoding},
189
  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.},
190
  year={2025},
191
  journal={Research Square Pre-print}
 
207
 
208
  ## Dataset Card Contact
209
 
210
+ Corresponding email: exome-bench@cerebras.net
211
 
212
+ - **Curated by:** Cerebras Systems in collaboration with Mayo Clinic
213
  - **Language(s) (NLP):** Python
214
+ - **License:** Creative Commons Attribution-NonCommercial 4.0 International: `cc-by-nc-4.0`