Advancing human genomics with nanopore sequencing white paper

Overview

High-throughput sequencing technologies have revolutionised the field of human genetics, allowing researchers to more easily investigate and understand biological processes and their impact. However, the inherent limitations of traditional short-read sequencing technologies preclude the analysis of many forms of genomic variation — from repeat regions, structural variants, and phasing to full-length transcript isoforms and methylation.

This white paper describes how researchers are now utilising nanopore sequencing to overcome these challenges, to deliver a more comprehensive understanding of the human genome and genetic diseases.