Workflow: SNV calling and phasing
Calling and phasing single nucleotide variants in the human genome with long nanopore reads
Compared to short-read technologies, nanopore sequencing does not suffer from GC bias and does not require PCR, enabling wider access to the genome for variant calling, and thereby increasing our understanding of genetic variation in health and disease.
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.