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Re-review / re-analysis

Re-review

If you would like to re-review a case but no re-processing through the pipeline is required, you can simply re-open the case within the New IB, and re-review (i.e. amend / update your existing case analysis). You can do this as many times as you would like. Please note, you may need to self-serve and restore the case in order to do this. Please see the case archiving page for further details.

Re-analysis (Reprocessing through the pipeline)

When a case needs to be re-processed through the pipeline, e.g. with different panels, re-analysis can be requested via the Service Desk, as per the existing process. Once requested:

  • A new referral ID will be created
  • The case will be redispatched to the New IB

Only the latest version of the case will exist in the IP, however both versions of the case will be visible in the New IB.

N.B. Please make sure you make a note of the original URL of the case before the redispatch takes place, as the direct URL will be the only way to access this once the redispatch has completed.

N.B. Please ensure that the case being analysed is the latest version of the case, so that the corresponding case in the IP is marked as reported and data sent to CVA. VILs for all past reviews will be visible in CVA, so no data is lost.

Future versions of the product will improve how cases that have been re-dispatched are handled and displayed, so that all previous versions of the case can be easily accessed through a case list within the product.

Abbreviations
Abbreviation Definition
ACGS Association for Clinical Genomic Science
ACMG American College of Medical Genetics and Genomics
CDS Coding DNA Sequence
CIP-API Genomics England Clinical Interpretation API
CNV Copy Number Variant
CVA Clinical Variant Ark
EQ Exit Questionnaire
New IB New Interpretation Browser
GEL Genomics England
GMS Genomic Medicine Service
GLH Genomic Laboratory Hub
HGVS Human Genome Variation Society
HTML Hyper Text Markup Language
HSCN Health and Social Care Network (N3)
IGV Integrative Genomics Viewer
IB Interpretation Browser
IP Interpretation Portal
NGIS National Genomics Informatics System
PID Patient Identifiable Data
QC Quality Control
SoF Summary of Findings
SO Sequence Ontology
SNV Single Nucleotide Variant
SV Structural Variant
TOMS Test Order Management Service
UAT User Acceptance Testing
VCF Variant Call Format File
VILs Variant Interpretation Logs
WGS Whole Genome Sequencing