Back

Finding heterogeneously methylated genomicregions using ONT reads

Raineri, E.; Alberola, M.; Dabad, M.; Heath, S. C.

2022-04-19 bioinformatics
10.1101/2022.04.19.488395 bioRxiv
Show abstract

SummaryNanopore reads encode information on the methylation status of cytosines in CpG dinucleotides. The length of the reads makes it comparatively easy to look at patterns consisting of multiple loci; here we exploit this property to look for regions where one can define subpopulations of cells based on methylation patterns. As a benchmark we run our clustering algorithm on known imprinted genes and show that the clustering based on methylation is consistent with the phasing of the genome; we then scan chromosome 15 looking for windows corresponding to heterogeneous methylation. We can also compute the covariance of methylation across these regions while keeping into account the mixture of different types of reads. Availabilityhttps://github.com/EmanueleRaineri/releases Contactemanuele.raineri@cnag.crg.eu, simon.heath@cnag.crg.eu Supplementary informationTables, figures, and some further explanations of the algorithms are available as online supplementary information.

Matching journals

The top 2 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.