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Performance benchmarking for calling and phasing of single-nucleotide polymorphisms and structural variants

Poster

Date: 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

Download the PDF

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