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pave v1.6

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@charlesshale charlesshale released this 01 Feb 01:18
· 1583 commits to master since this release

Functional:

  • keep splice effect for any phased variants
  • HGVS coding for dups now shift position to duplicated bases
  • handle phased missense and synonymous protein impacts
  • phasing check for SNV/MNV overlap with inframe INDEL separately from frameshift count 2+
  • favour protein duplications over inserts when considering realignment
  • use stop-gained in HGVS protein instead of frameshift if has both

Bugs:

  • check ref codon bases are valid in phasing routine, could cause crash if variant was at very end of exon with open reading frame
  • fixed ref codon addition for overlaps in phasing logic

Technical:

  • exit on thead error
  • multi-threaded

Config:

  • threads (default 1)
  • removed gnomad_load_chr_on_demand