Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads.
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DOI: 10.1038/s41592-021-01299-w
Abstract: Long-read sequencing has the potential to transform variant detection by reaching currently difficult-to-map regions and routinely linking together adjacent variations to enable read-based phasing. Third-generation nanopore sequence data have demonstrated a long read length, but… read more here.
Keywords: variant calling; haplotype aware; pepper margin; margin deepvariant ... See more keywords