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

ABSTRACT: 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.

SUBMITTER: Akbari V 

PROVIDER: S-EPMC7898412 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature