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ATAV 7.2
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@nickzren nickzren released this 08 Nov 21:21
· 151 commits to master since this release
7.2
d72fd66

New Feature:

  • Add variant prioritization / tier classification and standard variant filtration workflow for diagnostic analysis (to --list-trio and --list-singleton). (issue #6956)
  • Add a new diagnostic function called --list-singleton. (issue #7020)
    ** it supports tier classification rules by default
  • Add IGM Default Control AF (10k samples) to output and to filter variants. (issue #6870)
  • KnownVar data updated. (issue #6928)

Changes:

  • Output de novo, homozygous/hemizygous, inherited and compond heterozygous variants to a single output (flagged and non flagged). (issue #6928)
  • Changes to output HGMD DM and ClinVar PLP flanking region count. (issue #6975)
  • Treat ClinVar 'Conflicting_interpretations_of_pathogenicity' variant same as P/LP if CLNSIGCONF only contains P/LP or VUS. (issue #7047)
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