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Version 3.4.0

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@xiao-chen-xc xiao-chen-xc released this 07 Nov 19:16
· 2 commits to main since this release
a72afbc

Summary of changes:

  • Fix bug where MM/ML tags are off in supplementary alignments
  • Fix bug where the last base of a read is sometimes used in phasing
  • Fix bug in variant calling where in some reads a wrong base is chosen between primary and supplementary alignments
  • Fix bug where some alleles may include redundant haplotype names
  • Fix bug where it's not possible to lower the minimum variant frequency for variant calling for individual target regions. This change affects opn1lw and ikbkg.
  • Improve large deletion calling in reads. This change may affect all targets, particularly ikbkg and pms2.
  • Rename haplotypes to label gene1 and gene2 for regions with fusion calling(GBA, CYP2D6, CYP11B1 and CFH/CFHR3)
  • For smn1, consider more scenarios for adjusting SMN2 copy number
  • For ncf1, adjust copy number for the scenario where three haplotypes are found and all are present at two copies.
  • Update two copy haplotypes for CFHclust