Rapid identification of pathogenic variants and methylation with whole-genome Oxford Nanopore sequencing​​

Overview

With most rare conditions having a genetic cause, the study and understanding of pathogenic variants in the human genome is critical.

Oxford Nanopore human whole-genome sequencing enables faster-than-ever sample-to-answer turnaround times. Through streamlined sample preparation, real-time, on-demand sequencing, and a simple data analysis workflow, it is possible to go from research sample to variant information in just 24 hours.

In this workflow, you will:

• Find out how long, PCR-free Oxford Nanopore reads enable comprehensive characterisation of genomic and epigenetic variants across the genome

• Learn how PCR-free library preparation and real-time Oxford Nanopore sequencing on the PromethION 24 device produces high outputs of long reads

• Find out how intuitive analysis with the EPI2ME human variation workflow delivers all-in-one whole-genome calling of SNVs, indels, SVs, STRs, and CNVs, plus phasing, as well as methylation information