Advancing human genomics with nanopore sequencing white paper

Overview

High-throughput sequencing technologies have revolutionised the field of human genomics, allowing researchers to more easily investigate and understand biological processes and their impact. However, the inherent limitations of legacy 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. In this white paper, we discuss how nanopore technology is delivering a more comprehensive understanding of the human genome and genetic diseases with native DNA and RNA nanopore sequencing.

In this white paper, you will:

• Learn the importance of human genomics and its recent developments
• Discover the limitations of legacy sequencing technologies
• Find out how nanopore sequencing overcomes these limitations
• Read real-world case studies of how researchers are utilising nanopore sequencing to deliver new insights