Datasets:
Update README.md
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README.md
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DATASET_SUBSET = "ancestry_prediction"
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# Dataset subset should be from one of the available tasks:
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#
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#
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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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- **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
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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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- **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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DATASET_SUBSET = "ancestry_prediction"
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# Dataset subset should be from one of the available tasks:
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# ['ancestry_prediction', 'non_coding_pathogenicity', 'expression',
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# 'common_vs_rare', 'coding_pathogenicity', 'meqtl', 'sqtl']
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ds = load_dataset(
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"m42-health/variant-benchmark",
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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](https://github.com/google-deepmind/alphamissense) dataset, 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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- **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](https://www.nature.com/articles/nmeth.3547), 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](https://www.nature.com/articles/s41467-020-20578-2) 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](https://pubmed.ncbi.nlm.nih.gov/24931982/), 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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