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? 

Individuals who use HGVS and ISCN to describe genomic variants. Test your knowledge of HGVS and/or ISCN. There are currently available scenarios for:

• HGVS (basic level)
• ISCN Constitutional Karyotyping (basic level)
• ISCN Neoplasia Karyotyping (basic level)

The next ISCN scenario will be Constitutional FISH (basic level), Constitutional Microarrays, Neoplasia FISH and Neoplasia Microarrays. These scenarios follow the 2024 ISCN guidelines.

 

More scenarios will be introduced in the future, also covering advanced and complex levels. Future ISCN scenarios will include:

• Constitutional FISH
• Constitutional Microarrays
• Neoplasia FISH
• Neoplasia Microarrays
• Regions specific assays PCR and MLPA
• Sequencing 
• Genome mapping

Once scenarios are released, all the relevant updates will be included on our newsletter and on this page.

 

What is involved?

Participants can participate in the HGVS and/or the ISCN modules.  For each assessment, participants receive cases of variant descriptions, or images, to determine the correct nomenclature.  Participants can choose to complete some or all of the cases.   

 

Information for participants: 

• If you have previously participated in a GenQA individual competency assessment, these modules will be automatically available to you.  Login to your account and give them a go!   
• If you have not previously participated in a GenQA individual competency assessment, please click REGISTER NOW on this page. Once registered, participants have instant access to both the HGVS and ISCN modules. 
• The variants are randomly generated so participants can repeat the assessment multiple times (not included in the trial version).  
• Results are instantly automatically assessed once submitted.
• The correct nomenclature has been agreed by an international panel of experts. 

• The expected nomenclature are based on https://varnomen.hgvs.org/ or ISCN 2024.

 

On completion of each assessment: 

All participants will receive:

• Individual report which summarises their nomenclature, including the expected answer. The individual reports include an extended explanation for the incorrect answers.
• Certificate of participation

 

How do I enrol in the trial version? 

• Click REGISTER NOW on this page.   
• Follow the Nomenclature module INSTRUCTIONS to access the variants. 

 

Other modules include (see module-specific webpages): 

 

• Classification of BRCA1, BRCA2 and HRR gene variants

• Classification of germline SNV and CNV

• Genomic laboratory training videos

• Tissue assessment