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hgmd deletions
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  • v03_pipeline/lib/reference_datasets

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v03_pipeline/lib/reference_datasets/hgmd.py

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@@ -12,6 +12,9 @@ def get_ht(path: str, reference_genome: ReferenceGenome) -> hl.Table:
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contig_recoding=reference_genome.contig_recoding(),
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)
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ht = mt.rows()
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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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**{
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'accession': ht.rsid,

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