Datasets:
Update README.md
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README.md
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```python
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from datasets import load_dataset
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```
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## Benchmark Tasks
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Accurate prediction of pathogenic coding variants is fundamental to precision medicine and clinical genomics.
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For this task, we use the AlphaMissense dataset~\citep{cheng2023alphamissense}, which provides a comprehensive catalog of coding variants annotated for pathogenicity.
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Pathogenic variants in noncoding regions significantly impact gene regulation, influencing many complex traits and diseases.
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We assess this using the [BEND dataset](https://github.com/frederikkemarin/BEND), which contains 295,000 annotated single-nucleotide variants (SNVs) in noncoding genomic regions.
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Variant-driven changes in gene expression contribute to phenotypic diversity and disease processes.
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To quantify these effects, we use gene expression data from DeepSea, which provides variant-associated regulatory annotations.
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Variant-induced alternative splicing contributes significantly to human proteomic diversity and affects biological processes and diseases.
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We evaluate splicing-related variant effects using an sQTL dataset derived from sqtlSeeker2, containing over one million variant-tissue pairs.
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Genomic variants can influence DNA methylation patterns, affecting gene regulation and disease susceptibility.
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For this task, we utilize meQTL data from the GRASP database, which links genetic variants to methylation changes.
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Genomic variation encodes population structure, informing studies in evolutionary biology and disease susceptibility.
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To evaluate this capability, we used genomic segments labeled by five major superpopulations from the 1000 Genomes Project.
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This task evaluates the model’s ability to recognize biologically conserved genomic contexts characteristic of authentic common variants.
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To create this deataset, we randomly sampled 100K common variants (MAF > 0.05) from GnomAD~\citep{chen2024gnomad} and paired each with a synthetic control variant generated by randomly substituting a nucleotide within a ±20-nucleotide local context window.
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```python
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from datasets import load_dataset
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DATASET_SUBSET = 'ancestry_prediction'
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# Dataset subset should be from one of the available tasks: 'ancestry_prediction'
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# 'non_coding_pathogenicity'
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# 'expression'
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# 'common_vs_rare'
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# 'coding_pathogenicity'
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# 'meqtl'
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# 'sqtl'
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ds = load_dataset(
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"m42-health/variant-benchmark",
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DATASET_SUBSET,
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)
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print(ds)
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# Example output:
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# (Each dataset has a default 'train' split, but we recommend using k-fold cross-validation for better evaluation)
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# DatasetDict({
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# train: Dataset({
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# features: ['sequence', 'id', 'start_idx', 'chromosome', 'variants', 'parents', 'label'],
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# num_rows: 14085
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# })
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# })
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```
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## Benchmark Tasks
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- **Coding pathogenicity assessment:** `subset: coding_pathogenicity`<br/>
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Accurate prediction of pathogenic coding variants is fundamental to precision medicine and clinical genomics.
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For this task, we use the AlphaMissense dataset~\citep{cheng2023alphamissense}, which provides a comprehensive catalog of coding variants annotated for pathogenicity.
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- **Noncoding pathogenicity assessment:** `subset: non_coding_pathogenicity`<br/>
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Pathogenic variants in noncoding regions significantly impact gene regulation, influencing many complex traits and diseases.
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We assess this using the [BEND dataset](https://github.com/frederikkemarin/BEND), which contains 295,000 annotated single-nucleotide variants (SNVs) in noncoding genomic regions.
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- **Expression effect prediction:** `subset: expression`<br/>
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Variant-driven changes in gene expression contribute to phenotypic diversity and disease processes.
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To quantify these effects, we use gene expression data from DeepSea, which provides variant-associated regulatory annotations.
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- **Alternative splicing:** `subset: sqtl`<br/>
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Variant-induced alternative splicing contributes significantly to human proteomic diversity and affects biological processes and diseases.
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We evaluate splicing-related variant effects using an sQTL dataset derived from sqtlSeeker2, containing over one million variant-tissue pairs.
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- **DNA methylation:** `subset: meqtl`<br/>
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Genomic variants can influence DNA methylation patterns, affecting gene regulation and disease susceptibility.
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For this task, we utilize meQTL data from the GRASP database, which links genetic variants to methylation changes.
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- **Ancestry classification:** `subset: ancestry_prediction`<br/>
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Genomic variation encodes population structure, informing studies in evolutionary biology and disease susceptibility.
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To evaluate this capability, we used genomic segments labeled by five major superpopulations from the 1000 Genomes Project.
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- **Common vs synthetic variants:** `subset: common_vs_rare`<br/>
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This task evaluates the model’s ability to recognize biologically conserved genomic contexts characteristic of authentic common variants.
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To create this deataset, we randomly sampled 100K common variants (MAF > 0.05) from GnomAD~\citep{chen2024gnomad} and paired each with a synthetic control variant generated by randomly substituting a nucleotide within a ±20-nucleotide local context window.
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