Sergey Batalov from the Rady Children’s Institute for Genomic Medicine in the US presented at London Calling 2024 on “Patterns in genomic methylation determined with long-read sequencing.” Rady Children’s Institute is the only level four NICU in San Diego, Riverside, and Imperial counties. The Rady Children’s Hospital provides care to 256,000 kids/year! However, only 35% of kids get a diagnosis. The Rady Longread Cohort (with ONT) consisted of fifty-five cases, fifty-two pediatric cases, and three adults (parents). Batalov explained that the most important methylation is on chromosome X, and some genes may be imprinted. The team used a methylation workflow that made use of EPI2ME wf-human-variation workflow. An algorithm was applied for automatic methylation dysregulation detection to construct a pattern of “normal” methylation patterns. The goal was to identify regions with unusual methylation. Batalov concluded that measuring methylation is useful, and they are working on a software package for public release.
