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Release Notes

Releases for the Interpretation Portal are bundled with NGIS releases, details of which can found here.

What's new in the Interpretation Portal?

Hercules 1.1 Janurary 2023
  • The Interpretation Browser now contains links to DECIPHER, gnomAD and UCSC
  • Variant read depth is displayed in the Interpretation Browser
  • There's a new variant copy button that copies variant details into Alamut format for easier pasting
  • The STR sorting has been improved and there is a new STR filter
  • When users filter variants based on Exomiser score the default filter value has changed to 0.75
  • See here for more info on these changes
Grace November 2022- Click for more info
  • The Interpretation Portal is now displaying Tier Null STRs. More information here, including a demo video.
  • The warning that FMR1 variants are not reported in STR report events has been updated to only be shown if FMR1 variants are indeed not reported, so that users don't incorrectly assume FMR1 STRs are not reported. More information here.
  • A new scenario has been included in The Diagnostic Discovery video to help users navigate through cases with non-PASS variants. Watch it here.
  • The landing page of the Portal Help Page now displays an introductory video to the Interpretation Portal's role in the GMS. Watch it here.
  • New files associated with cancer referrals available for download. Including, annotated VCF for small variants, germline CNV/SV VCF, somatic CNV/SV CSV, BAF for tumour samples. Please refer to the Cancer Genome Analysis Guide for further information

Coming Up Next!

1. Add more links to external resources (INTPORTAL-1550)

More link outs to external resources!

  1. OMIM
  2. PanelApp
  3. VarSome
  4. SpliceAI
2. Ability to add "non-pass" variants from VCF files (INTPORTAL-1356)

Currently when using the "Add variants from VCF" function of the Interpretation Browser only variants that are filter quality "PASS" in the VCF are added. There are increasing numbers of Diagnostic Discovery results being returned where the variant quality is not "PASS" therefore users need to have the ability to add these non-PASS variants into their summary of findings so they can be accurately reported and added to CVA.

If you have any feedback please get in touch with our service desk at ge-servicedesk@genomicsengland.co.uk quoting the INTPORTAL-XXXX

Last update: 2023-01-19