Workflow: SNV calling and phasing

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

With an estimated 8% of the human genome still unsequenced¹, our understanding of genetic variation has been limited. Compared to short-read technologies, nanopore sequencing lacks GC bias and does not require PCR, enabling wider access to the genome for variant calling.

Assigning variants to the maternal or paternal chromosome (phasing) is important for understanding their inheritance and functional impact. Long and ultra-long nanopore sequencing reads greatly enhance phasing, especially of heterozygous variants, as an individual read is more likely to contain multiple single nucleotide variants (SNVs).

Here we present a simple workflow for calling and phasing SNVs in the human genome.

Download the SNV calling and phasing workflow