End-to-end workflow for haplotype-resolved genetic and epigenetic variant calling using Oxford Nanopore sequencing


LC2025 human variation PO_1247

Comprehensive identification and interpretation of single nucleotide variants (SNVs), structural variants (SVs), copy number variants (CNVs), and epigenetic modifications from a single PromethION Flow Cell.

Download the poster to find out:

  • How nanopore sequencing accuracy and read lengths enable calling and phasing of SNVs with high sensitivity and specificity, even in difficult genomic regions

  • How long, native Oxford Nanopore reads enable precise calling of phased SVs, CNVs repeat expansions, and 5mC and 5hmC in a single assay