Exploratory pilot EQA for germline large variant detection (CNV & SV)

Posted 13/08/2019

For Participants of the 2018 NGS Germline EQA only:

Following participant feedback, the remit of our NGS EQAs is being expanded to include copy number variant (CNV) and structural variant (SV) detection.  In recognition of the increasing workload of laboratories, this exploratory pilot is designed to use NGS data obtained from the 2018 NGS Germline pilot EQA and laboratories are invited to re-analyse for the detection of CNVs and SVs.

  • Includes assessment of variants of greater than 50 base-pairs in size.
  • Technical EQA only - there will be no assessment of clinical interpretation.
  • The cost of participation is £100.

Participants of the 2018 NGS Germline pilot EQA are invited to complete a short expression of interest survey by Friday 13th September 2019.  
For further information, please e-mail GenQA at info@genqa.org


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