Releases: eastgenomics/eggd_generate_rd_wgs_workbook
Releases · eastgenomics/eggd_generate_rd_wgs_workbook
v1.2.0
- 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
- 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
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.