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arbitrarily choose a value for hgmd
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  • v03_pipeline/lib/reference_datasets

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v03_pipeline/lib/reference_datasets/hgmd.py

Lines changed: 4 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -15,9 +15,12 @@ def get_ht(path: str, reference_genome: ReferenceGenome) -> hl.Table:
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# HGMD represents DELETIONS as Structural Variants
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# which is less than ideal.
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ht = ht.filter(ht.alleles[1] != '<DEL>')
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return ht.select(
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ht = ht.select(
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**{
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'accession': ht.rsid,
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'class': ht.info.CLASS,
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},
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)
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# HGMD duplicates exist due to phenotype information
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# arbitrarily choosing a value should be sufficient.
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return ht.distinct()

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