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pb-StarPhase v0.13.1

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@holtjma holtjma released this 01 Aug 15:30
· 16 commits to main since this release
7786273

Changes

  • For HLA genes, StarPhase would previously ignore any HLA allele definitions that were missing a DNA sequence in the database. StarPhase now allows these partial HLA allele definitions by default.
  • A new option was added to enable the previous behavior: --hla-require-dna. If this option is enabled, any HLA allele definition that is missing a DNA sequence will be ignored and never reported in StarPhase outputs.

Fixed

  • Fixed an issue where a CYP2D6 deletion allele (*5) could be reported on the same haplotype as another allele. While this is biologically possible (e.g., deletion of one *10 in a "*10x2" haplotype), it is not considered a valid star-allele at this time. This combination will still show up in the debug log files, but it will get filtered in final reporting. For example: a "*10+*5" haplotype will now get reported as "*10".