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@xiao-chen-xc xiao-chen-xc released this 31 Oct 23:40
· 11 commits to main since this release
v3.0.0
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Learn about vigilant mode.

Summary of changes:

  • Added HBA1/HBA2 and OPN1LW/OPN1MW callers
  • Added ~150 segmental duplication regions for GRCh38
  • Improved gene callers
    • F8: Improved calling of Intron22 inversion and Exon1-22 deletion
    • NCF1: Improved assignment of genes to NCF1 vs. pseudogenes
    • PMS2: Improved assignment of genes to PMS2 vs. pseudogene. Updated the coordinates of the region to phase
    • IKBKG: Improved assignment of genes to IKBKG vs. pseudogene. Updated the coordinates of the region to phase
    • RCCX: Better calling of a multi-allelic site IVS2-13A/C>G
    • CFC1: Updated the coordinates of the region to phase
  • For SMN1/STRC/PMS2/IKBKG/NCF1, variants are now called against the gene for gene haplotypes and against the paralog/pseudogene for paralog/pseudogene haplotypes
  • Report F8 Intron 22 inversion and Exon1-22 deletion, and IKBKG 11.7kb deletion in VCFs
  • Improved homopolymer/simple repeat masking before phasing
  • Included filtered calls in VCFs
  • Added GRCh37/hg19 support for 11 medically relevant gene families
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