Brynja Sigurpalsodottir from deCODE Genetics in Iceland presented at the Nanopore Community Meeting in Boston. They explained how methylation can be detected with base-calling. The dataset they created is from 7,179 whole blood samples sequenced on R9.4 PromethION flow cells. The team compared sample-to-sample profiles and methylation approaches. The results were published and showed the impact of base calling. Next, they analyzed methylation-depleted sequences and expression patterns. Sequence variants correlate with methylation. The correlation between methylation and RNA expression was explored. Sigurpalsodottir shared examples of the association between CpG methylation, gene expression, and alleles of sequence variants on a haplotype level. The researchers have ongoing methylation projects focusing on epigenetic aging and clinical cases. Methylation patterns may be used as clinical biomarkers and for phenotype predictions. deCODE Genetics continues to investigate the impact of methylation patterns at scale.
