Oxford Nanopore and genomics firm SeqOne are collaborating on an end-to-end platform for whole-genome nanopore sequencing reads in clinical diagnostic testing.
The initial aim of the platform will be to help identify variants associated with rare diseases; in the future, the platform's scope will be expanded to include oncology diagnostics.
The new workflow will integrate SeqOne's artificial intelligence (AI)-powered application for variant interpretation germVar with Oxford Nanopore's EPI2ME bioinformatics analysis software, which is currently limited to research use only.
"We are excited to collaborate with SeqOne to provide end-to-end solutions for our customers in rare disease and oncology," Oxford Nanopore's CEO Gordon Sanghera, PhD, said in a statement. "Combining nanopore sequencing data with SeqOne's AI-powered variant interpretation platform will support the time-sensitive workflows of our clinical customers, and we look forward to advancing their research and supporting future clinical use."
SeqOne has also announced the launch of its global research partnership program, a collaboration with the medical community and life science companies in which SeqOne will use Oxford Nanopore's adaptive sampling to develop custom bioinformatic pipelines.
