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Releases: eastgenomics/egg5_dias_CEN_config

v3.1.10

29 Oct 15:19
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Update to use the latest version of cen_vep_config_v1.1.20.json which includes latest ClinVar (20241015) and HGMD 2024.3 annotation resource.

v3.1.9

26 Sep 15:36
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Update to use the latest version of cen_vep_config_v1.1.19.json which includes latest ClinVar (20240909) annotation resource.

v3.1.8

30 Aug 06:57
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Updated to use latest CEN VEP config v1.1.18 (fixed file ID for mosaic reports)

v3.1.7

23 Aug 14:30
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Updated to use latest CEN VEP config v1.1.18

v3.1.6

01 Aug 14:21
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Updated to use latest CEN VEP config v1.1.17

v3.1.5

16 Jul 14:21
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Updated to use eggd_artemis v1.5.0

v3.1.4

27 Jun 07:38
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Updated to use latest versions of:

  • SNV reports workflow v2.2.2 (and updated configuration for eggd_athena to start outputting summary text file)
  • CEN SNV VEP config v1.1.16

v3.1.3

12 Jun 08:36
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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
  • Updated to use the latest CEN VEP config cen_vep_config_v1.1.15.json

Testing page:
https://cuhbioinformatics.atlassian.net/wiki/spaces/DV/pages/3230367754/dias+CEN+config+GRCh37+v3.1.3.json

v3.1.2

11 Apr 13:04
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Updated to fix human readable description of variant filtering removing the reference to pop max

v3.1.1

09 Apr 09:37
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Updated to use latest:

  • cen_vep_config_v1.1.13.json
  • dias_reports_v2.2.1
  • dias_cnvreports_v1.2.0
  • 240402_g2t.tsv
  • 240405_genepanels.tsv

See testing doc for more information:
https://cuhbioinformatics.atlassian.net/wiki/spaces/DV/pages/3165356037/dias+CEN+config+GRCh37+v3.1.1.json