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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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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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# Human variants
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A curated set of variants from three sources: ClinVar, COSMIC, 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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**COSMIC**:
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Somatic missense variants with a frequency at least 0.1% in cancer samples (whole-genome and whole-exome sequencing only).
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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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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 - COSMIC frequent vs. gnomAD common (missense):
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```python
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dataset = dataset.filter(lambda v: v["source"]=="COSMIC" 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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