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Support repeats in genotypes when generating VCF-style variant identifiers #17

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apriltuesday opened this issue Aug 21, 2023 · 0 comments

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apriltuesday commented Aug 21, 2023

For example (CA)16/(CA)17 (rs11568315 in clinical annotation 981475986). Evidence containing these genotypes is generated, but without genotype IDs, consequences or target genes.

Tasks:

  • Confirm that the format is consistent (check logs for past runs)
  • Decide what identifier to use for these
  • Implement consequence prediction, integrating logic from CMAT's repeat expansion pipeline as needed
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