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Create README.md
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README.md
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# Human variants
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A curated set of variants from three sources: ClinVar, OMIM and gnomAD.
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## Data sources
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**ClinVar**:
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Missense variants considered "Pathogenic" by human labelers.
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**OMIM**:
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Regulatory variants considered "Pathogenic" by human labelers, curated in [this paper](https://doi.org/10.1016/j.ajhg.2016.07.005).
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**gnomAD**:
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A subset of rare (MAC=1) and common (MAF > 1%) variants from different categories.
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## Usage
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Load dataset:
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```python
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from datasets import load_dataset
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dataset = load_dataset("songlab/human_variants", split="test")
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```
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Subset to compare ClinVar Pathogenic missense vs. gnomAD common missense (here we define common as MAF > 5%):
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```
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```
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