Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing

This study aimed to evaluate whether PacBio HiFi long-read sequencing can detect genome-wide DNA methylation and disease-specific episignatures. We focused on identifying parentally imprinted regions and distinguishing known episignatures linked to genetic disorders. The goal was to assess its value for clinical diagnostics, including variant classification. In this collection, we share the methylation data of the KMT2A cases and controls that were used in the episignature analysis.