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Oxford Nanopore's sequencing picked for comprehensive US human genome project

By Steve Charnock
13 May 2022

Oxford Science Park-based Oxford Nanopore Technologies have been selected to help generate comprehensive insights by characterising a more complete genome using samples from the 1000 Genomes Project, an international catalogue of common human genetic variation.

The life sciences company focus on developing nanopore sequencing products. The Oxford University spin-out will use DNA and RNA strand sequencing to 'gain greater genomic insights from the comprehensive dataset to create a catalogue of structural variation - from a diverse set of individuals - into clinically relevant variants by providing accurate, affordable, scalable and comprehensive information.'

Oxford Nanopore's technology was selected by researchers at the University of Washington and Seattle Children's Hospital for the special program.

Evan Eichler is a professor of Genome Sciences at the University of Washington. He said this about the project: "Long-read sequencing is discovering potential disease-causing structural variations that were previously missed by short reads."

"The challenge is interpreting these variants of unknown significance. Having a database of structural variants from unaffected diverse controls is key to pinpointing to the disease-causing events."

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This is where Oxford Nanophore come in.

CEO Gordon Sanghera says this: "As we know through Evan Eichler's earlier research, a significant fraction of all disease-causing variation is made up of variants that are larger than a single base-pair substitution, meaning that nanopore sequencing can reveal new insights throughout the genome. So we are delighted that Oxford Nanopore has been selected for this important study and we look forward to it delivering accurate, affordable, scalable and comprehensive long read insight."

"We are also pleased to be contributing to ongoing democratisation of DNA sequencing as this is an open data project, which we hope will enable even more discoveries."

All of the data and findings from this Nanopore study will be available to the public and be fully open access. Not only that but the results are set to be made available almost immediately.

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