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Euformatics, UK Quality Assessment Organizations Expand Partnership to Include CNV Data

NEW YORK – Finnish bioinformatics firm Euformatics said today that it has expanded an existing partnership with genomic quality assessment bodies EMQN and UK NEQAS for Molecular Genetics (currently known as Genomics Quality Assessment, or GenQA).

Under the partnership, Euformatics, EMQN, and GenQA will extend prior work on the development of an external quality assessment (EQA) technical scheme for next-generation sequencing-based clinical testing to include copy number variation data.

To support this, Euformatics will provide a bespoke version of its OmnomicsQ NGS data quality management software.

"The current NGS EQA which incorporates both germline and somatic testing has been expanded in response to participation demands and the widespread implementation of NGS detection of CNVs in the clinical setting," Sandi Deans, director of GenQA, said in a statement. "It is therefore important to standardize approaches to ensure high-quality testing is delivered to patients, and EQA plays a fundamental role in this."