v3.1.8

Updated to use TWE VEP config v1.1.20
Testing info can be found here: https://cuhbioinformatics.atlassian.net/wiki/spaces/DV/pages/3398959140/dias_TWE_config_GRCh37_v3.1.8.json

v3.1.7

Updated to use latest TWE VEP config v1.1.19

v3.1.6

Updated to use latest TWE VEP config v1.1.18

v3.1.5

Updated to use eggd_artemis v1.5.0

v3.1.4

Updated to use latest versions of:

• SNV reports workflow v2.2.2 (and updated configuration for eggd_athena to start outputting summary text file)
• TWE VEP config v1.1.17

v3.1.3

Changes:

• Fix for the eggd_optimised_filtering filter string to:
  • allow the filter to include variants with a CLNSIG value containing “Pathogenic” (case-sensitive) or “Likely_pathogenic” (case-insensitive)
  • use the correct syntax for case-insensitive pattern matching
• update to use the latest TWE VEP config twe_vep_config_v1.1.16.json

Testing page:
https://cuhbioinformatics.atlassian.net/wiki/spaces/DV/pages/3251011625/dias+TWE+config+GRCh37+v3.1.3.json

v3.1.2

Updated to fix human readable description of variant filtering removing the reference to pop max

v3.1.1

Updated to use latest:

• twe_vep_config_v1.1.14.json
• dias_reports_v2.2.1
• 240402_g2t.tsv
• 240405_genepanels.tsv

See testing doc for more information:
https://cuhbioinformatics.atlassian.net/wiki/spaces/DV/pages/3165356112/dias+TWE+config+GRCh37+v3.1.1.json

v3.0.3

• Uses new reports workflow dias_reports_workflow_v2.1.1
• 2.1.1 reports workflow uses new eggd_generate_variant_workbook 2.8.0, so the new config has all the required inputs for 2.8.0 of workbooks.

v3.0.2

Changes:

• Update version number to dias_TWE_config_GRCh37_v3.0.2.json
• Vep config updated to v1.1.12
• Removed egg4_config_v2.1.6.py
• Update the README.md to reflect latest names/versions used in the config

Confluence page: https://cuhbioinformatics.atlassian.net/wiki/spaces/DV/pages/3078553601/dias+TWE+config+GRCh37+v3.0.2.json