• Digital-Health-Conference-2020

AgendaTalk Details

New Nanopore Sequencing Strategies for Accurate, Accessible and Accelerated Genomic Diagnosis

15:20 - 15:45 Building 19, Hall 1

The Oxford Nanopore sequencing technology is unique in its ability to deliver ultra-long single-molecule reads of DNA and RNA. Nanopore sequencing can be done in real-time on a portable device, which makes it an attractive platform for personalized genome medicine.

The long reads of nanopore sequencing have been exploited in scaffolding genomes, especially in repetitive DNA, and in the detection of structural variations in the genome. However, the low raw-read accuracy of nanopore sequencing hampers its application in genomic diagnosis.

We have developed several new strategies that use targeted locus amplification, single-molecular consensus sequencing, and deep-learning-based data analysis tools to enable rapid and accurate determination of single nucleotide variants and structural variants at subclonal levels. We d these technologies to rare mutation detection and analysis of genome integrity after CRISPR genome editing.