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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

 

ENROL NOW

 

Assessment open: 7th-30th April 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