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

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  • Published on: May 19 2026
Poster: human variation end2end

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 Oxford Nanopore sequencing enables calling and phasing of SNVs with high accuracy, even in difficult genomic regions

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

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