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Releases: eastgenomics/eggd_generate_rd_wgs_workbook

v1.2.0

30 Sep 10:15
8a4e8d9
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  • Fix exomiser ranking page, so only variants that are not already included in the GEL tiering page are added to it
  • Fix bug to allow JSONs without GEL tiering variants to be processed without the job failing
  • Rename mode of inheritance column to Panel MOI, to reflect that it is in the context of the panel
  • Add functionality to use new input file to add panel names and test codes
  • Do not add NR_ participant IDs to the summary page as these participants do not have sequencing data available, and it can mislead analysts into thinking a duo is a trio
  • Fix #8

v1.1.0

02 Aug 11:03
fab0820
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  • Make compatible with both new and old JSON structures
  • Ignore participant IDs beginning with NR when looking through variant calls (these participants are have not been sequenced)
  • Both MANE Select and MANE Plus Clinical will be returned if both exist
  • Older versions have no clinical indication, this will be skipped if not present and all penetrance options will be returned
  • New test added for JSON structure determination + old tests updated to be compatible with updates.

v1.0.0

24 Jul 13:59
835dea4
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Initial release of eggd_generate_rd_wgs_workbook, which takes in a RD WGS JSON from GEL and produces an xlsx report of the variants to be interpreted.