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Update README.md
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README.md
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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 >
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## Usage
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```python
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dataset = load_dataset("songlab/human_variants", split="test")
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```
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Subset
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```python
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dataset = dataset.filter(lambda v: v["source"]=="ClinVar" or (v["
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```
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Subset
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```python
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cs = ["5_prime_UTR", "upstream_gene", "intergenic", "3_prime_UTR", "non_coding_transcript_exon"]
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dataset = dataset.filter(lambda v: v["source"]=="OMIM" or (v["
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```
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Subset
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```python
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dataset = dataset.filter(lambda v: v["source"]=="gnomAD")
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```
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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 > 5%) variants from different categories (missense, synonymous, ncRNA, intronic, upstream, etc.).
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## Usage
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```python
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dataset = load_dataset("songlab/human_variants", split="test")
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```
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Subset - ClinVar Pathogenic vs. gnomAD common (missense) (can specify `num_proc` to speed up):
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```python
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dataset = dataset.filter(lambda v: v["source"]=="ClinVar" or (v["label"]=="Common" and "missense" in v["consequence"]))
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```
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Subset - OMIM Pathogenic vs. gnomAD common (regulatory):
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```python
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cs = ["5_prime_UTR", "upstream_gene", "intergenic", "3_prime_UTR", "non_coding_transcript_exon"]
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dataset = dataset.filter(lambda v: v["source"]=="OMIM" or (v["label"]=="Common" and "missense" not in v["consequence"] and any([c in v["consequence"] for c in cs])))
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```
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Subset - gnomAD rare vs. gnomAD common:
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```python
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dataset = dataset.filter(lambda v: v["source"]=="gnomAD")
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```
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