End-to-end workflow for haplotype-resolved genetic and epigenetic variant calling using Oxford Nanopore sequencing
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- Published on: May 20 2025
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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.
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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
