Variant nomenclature modules  

These modules provide an online competency assessment for Human Genome Variation Society (HGVS) nomenclature and International System for Human Cytogenomic Nomenclature (ISCN).

 

Who can participate?

For individuals who use HGVS and ISCN to describe genomic variants.

Current scenarios include:

• HGVS nomenclature (basic and advanced)
• ISCN constitutional karyotyping (3 difficulty levels)
• ISCN neoplasia karyotyping (basic)
• ISCN constitutional FISH (basic)
• ISCN constitutional microarrays (basic)

Upcoming scenarios:

• Neoplasia karyotyping (intermediate and advanced)
• Constitutional FISH (intermediate)

All ISCN scenarios follow the 2024 ISCN guidelines.

 

More scenarios will be added over time, including microarrays, FISH, sequencing, and genome mapping (basic to advanced levels). Updates will be shared via newsletter and this page.

 

What is involved?

Participants receive variant descriptions or images and select the correct nomenclature. You can complete some or all cases.

 

Key information

• Variants are randomly generated (repeatable, except trial version)
• Results are automatically marked
• Answers are based on an international expert panel
• References: HGVS (varnomen.hgvs.org) and ISCN 2024

 

On completion of each assessment:

Participants receive:

• An individual report with correct answers and explanations
• A certificate of participation

 

How do I enrol? 

• Individual genomics professionals can invest in their own GENie training (access to all GENie modules, HGVS Nomenclature, ISCN, CNV/SNV Classification, Risk Calculations, Tumour Variant Classification, WGS/WES proportionate variant analysis) for just £35 for 12 months. Purchase using PayPal.
• Laboratories or clinical centres can purchase multilicences for GENie for 10 users, costed at £330, per calendar year. This product includes access to all GENie modules. The end date of the tokens expire at midnight on 1st January. Log in to your GenQA account and go to the ‘purchase’ interface for the GENie multilicence for laboratories and clinical centres product.