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@@ -240,13 +240,9 @@ 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",
@@ -270,7 +266,7 @@ print(ds)
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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.
@@ -278,15 +274,15 @@ We assess this using the [BEND dataset](https://github.com/frederikkemarin/BEND)
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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.