2019 DNA SEQUENCING - CNV / SV detection using NGS (v Germline)

Scheme description
Next Generation Sequencing (NGS) technical EQA for CNV / SV detection using NGS - reanalyse 2018 NGS Germline pilot EQA data for CNVs and SVs (>50bp) and submit a VCF and the corresponding BED file
Disorders/Gene target(s)
Any
Clinical cases
1
Testing/analysis
Copy number variant (CNV)
Structural variant (SV)
Sample type
Re-analysis of 2018 NGS Germline data
Techniques
Any
Assessment
Accuracy of CNV / SV detection against the consensus sequence and a panel of NGS data quality metrics.
This is a pilot EQA so no performance criteria will be applied.
Eligibility
Participants of the 2018 NGS Germline EQA
Languages
English
ISO1743 Accredited EQA
No
EQA timeline
Sample dispatchNo sample provided as this involves reanalysis of 2018 NGS Germline data
Testing periodThree weeks
Assessment resultsTBC
Final Summary reportTBC
Other information
Fee
£100.00
GenQA code
2019 NGS CNV germline pilot
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