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WGS/WES proportionate variant analysis

This module provides an online competency assessment for whole genome sequencing (WGS) and whole exome sequencing (WES) proportionate variant analysis aligned with the ACGS
position statement
.

 

Who can participate? 

This assessment is ideal for individuals performing Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES), and offers a valuable opportunity to demonstrate competency in genomic data analysis, aligned with the ACGS position statement.

 

What is involved? 

For this assessment, participants will receive X clinical case scenarios to complete within three weeks.

 

Information for participants:

Once registered, participants will receive:

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 WGS/WES proportionate variant analysis assessment.

 

On completion of the assessment:

All participants will receive the following:

 

How do I enrol? 

For further information please contact us at info@genqa.org

 

Available globally 

Participant tailored assessment 

Access your EQA record any time through the GenQA website

 

Upcoming Assessment – Autumn 2025
Please note that the next assessment is scheduled to open in Autumn 2025. Further details, including key dates and requirements, will be made available in October 2025.

 

 

Proportionate variant analysis

 

'A pragmatic and proportionate approach to variant interpretation is required in order to achieve a balance between diagnostic sensitivity, timely reporting and service capacity.'

 

Association for Clinical Genomic Science Rare Disease Position Statement Working Group.

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

Ellard S et al., J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228. PMID: 39327040