Calling and phasing single nucleotide variants in the human genome with long nanopore reads

Overview

Assigning variants to the maternal or paternal chromosome (phasing) is important for understanding their inheritance and functional impact. Nanopore sequencing can generate reads of any length, from short to ultra-long, greatly enhancing phasing, especially of heterozygous variants that are more likely to contain multiple single nucleotide variants (SNVs). This end-to-end workflow provides a simple solution for calling and phasing SNVs in the human genome.

In this workflow, you will:

• Find out how PCR-free nanopore sequencing enhances calling and phasing of SNVs in the human genome
• Discover our best practice sequencing workflow in detail, starting from the recommended extraction method, through to primary analysis
• Learn about our recommended sequencing kit and devices