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 or ISCN to describe genomic variants.    Test your knowledge of HGVS and/or ISCN, including sequencing, karyotyping and FISH and/or molecular cytogenomics (constitutional and acquired).

 

What is involved?

Participants can participate in the HGVS and/or the ISCN modules.  For each assessment, participants receive 5 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 TO ACCESS VARIANTS on this page. Once registered, participants have instant access to both the HGVS and ISCN modules. 
• The free trial version is available until 6th December.
• 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 2020 (https://karger.com/books/book/358/ISCN-2020An-International-System-for-Human).

 

On completion of each assessment: 

All participants will receive:

• Individual report which summarises their nomenclature, including the expected answer.
• Certificate of participation

 

How do I enrol in the trial version? 

• Click REGISTER TO ACCESS VARIANTS on this page.   
• Follow the Nomenclature module INSTRUCTIONS

 

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