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Oxford Nanopore Technologies, SeqOne Partner on Variant Interpretation for Clinical Sequencing Tests

NEW YORK – Oxford Nanopore Technologies said Monday that it has inked a partnership with genomic analysis software company SeqOne to support the interpretation of variants from whole-genome nanopore sequencing data for clinical use.

Financial terms of the deal were not disclosed.

Under the partnership, the firms will develop analytical workflows, focusing on rare diseases in the short term and oncology in the longer term.

SeqOne’s GermVar software has been available for research use only on Oxford Nanopore’s Epi2Me platform to help interpret whole-genome variants. In addition, SeqOne also offers SeqOne DiagAi for ranking, shortlisting, and suggesting causative variants. Following a test period with early adopters, the GermVar software is now available for free trial testing by molecular diagnostic laboratories.

In the future, the collaboration will expand to other variant interpretation applications addressing the needs of cancer predisposition and somatic analysis, according to Oxford Nanopore.

SeqOne also said it has launched a global research partnership program that will use Oxford Nanopore's adaptive sampling to develop custom bioinformatic pipelines. The firm plans to collaborate with the medical community and life science firms, with the goal of improving diagnostic yield and patient care.