Workflow: SNV calling and phasingLiterature
Date: 15th September 2020
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.