A guide to human genomics with Oxford Nanopore

Overview

From population-scale studies to the potential for personalised medicine, genomics provides crucial insights into human health, development, and both rare and complex diseases.

This guide introduces how to sequence human genomes with Oxford Nanopore, from the construction of new, highly complete reference assemblies to the comprehensive identification of variants.

In this getting started guide, you will:

• Find out how Oxford Nanopore sequencing makes it possible to capture and phase genomic variants and methylation across the genome comprehensively from a single dataset

• Learn how nanopore-only reads can be used to construct highly complete, telomere-to-telomere (T2T) human genome assemblies

• Discover sample-to-answer workflows for your experimental goals, including information on library preparation and the range of nanopore sequencing devices

• Discover all-in-one variant calling and methylation analysis with the intuitive EPI2ME human variation bioinformatics workflow

• Find out how the Nanopore Community are addressing critical gaps in global representation across reference genomes and gaining insights into complex disease through large cohort research