Release Notes
Releases for the Interpretation Portal are bundled with NGIS releases, details of which can found here.
Grace Update - What's new in the Interpretation Portal?¶
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