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Version 3.1.0

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@xiao-chen-xc xiao-chen-xc released this 17 Apr 16:06
· 6 commits to main since this release
dba17f8

Summary of changes:

  • Improve PMS2/PMS2CL differentiation
  • Output protein changes at five potentially pathogenic sites in OPN1LW/OPN1MW
  • Update region definitions for some families
  • Add a few regions for fusion calling
    • CYP2D6, GBA, CYP11B1, the CFH gene cluster
  • Improve VCFs. See documentation here
    • For each region, all gene copies are now in a single VCF file per sample, reported as sample columns in the VCF.
    • Report boundary coordinates and the truncated status of a haplotype in the VCF.
    • Report groups of haplotypes on the same chromosome when this information is available.