Megabase-scale methylation phasing using nanopore long reads and NanoMethPhase

Autor: Vahid Akbari, Jean-Michel Garant, Kieran O’Neill, Pawan Pandoh, Richard Moore, Marco A. Marra, Martin Hirst, Steven J. M. Jones
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Genome Biology, Vol 22, Iss 1, Pp 1-21 (2021)
Druh dokumentu: article
ISSN: 1474-760X
DOI: 10.1186/s13059-021-02283-5
Popis: 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.
Databáze: Directory of Open Access Journals