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Add check for duplicate records to MainVcfQc #701

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epiercehoffman opened this issue Jul 30, 2024 · 0 comments · May be fixed by #705
Open

Add check for duplicate records to MainVcfQc #701

epiercehoffman opened this issue Jul 30, 2024 · 0 comments · May be fixed by #705
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enhancement New feature or request

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@epiercehoffman
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epiercehoffman commented Jul 30, 2024

We've run into a few different bugs resulting in redundant records. While we have fixed or are in the process of fixing those, it would be good to routinely check for this as part of our QC. We should add a check for duplicate records to MainVcfQc.wdl.

This check should:

  • Count redundant records that exactly match on the following fields: CHROM, POS, END, SVTYPE, SVLEN, CHR2, END2, STRANDS, CPX_TYPE, CPX_INTERVALS
  • Count redundant INS records that exactly match on CHROM and POS and have (a) 100%, (b) 50%, and (c) 0% size similarity based on SVLEN.
  • Count redundant INS records that exactly match on CHROM and POS and have (a) identical ALT, (b) records with <INS> matching records with <INS:*>, and (c) records with <INS:*> matching records with a different subtype of <INS:*>
  • Output counts as well as lists of variant IDs for the duplicate records of different categories
@kjaisingh kjaisingh self-assigned this Aug 6, 2024
@kjaisingh kjaisingh linked a pull request Aug 9, 2024 that will close this issue
@kjaisingh kjaisingh linked a pull request Aug 9, 2024 that will close this issue
@kjaisingh kjaisingh added the enhancement New feature or request label Aug 18, 2024
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