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Megabase-scale methylation phasing using nanopore long reads and NanoMethPhase.

Vahid AkbariJean-Michel GarantKieran O'NeillPawan PandohRichard MooreMarco A MarraMartin HirstSteven J M Jones
Published in: Genome biology (2021)
The ability of nanopore sequencing to simultaneously detect modified nucleotides while producing long reads makes it ideal for detecting and phasing allele-specific methylation. However, there is currently no complete software for detecting SNPs, phasing haplotypes, and mapping methylation to these from nanopore sequence data. Here, we present NanoMethPhase, a software tool to phase 5-methylcytosine from nanopore sequencing. We also present SNVoter, which can post-process nanopore SNV calls to improve accuracy in low coverage regions. Together, these tools can accurately detect allele-specific methylation genome-wide using nanopore sequence data with low coverage of about ten-fold redundancy.
Keyphrases
  • genome wide
  • single molecule
  • dna methylation
  • solid state
  • electronic health record
  • single cell
  • copy number
  • gene expression
  • healthcare
  • high resolution
  • amino acid
  • high density
  • artificial intelligence