Performance benchmarking for calling and phasing of single-nucleotide polymorphisms and structural variants
PosterDate: 5th December 2022
The length, accuracy and low bias of nanopore reads makes them ideally suited to the characterisation and phasing of structural variants and single-nucleotide polymorphisms across the entire genome.
Download the poster to discover:
- How long nanopore sequencing reads make it feasible to call long structural variants with high sensitivity and specificity, even in difficult regions of the human genome
- How the combination of long reads with highly sensitive and specific calling of single-nucleotide polymorphisms simplifies phasing and results in exceptionally long phase-blocks