P125: Solving the unsolved: Epigenomic insights from long-read sequencing improves diagnosis of Mendelian disorders*

This is the authors' abstract. We don't add key points for this paper.

Short-read exome and genome sequencing are widely used for diagnosing genetic disorders, with reported molecular diagnostic yields ranging from 12% to 72%, leaving many cases unresolved. These undiagnosed cases often stem from limitations in detecting single nucleotide variants (SNVs) in complex regions, structural variants (SVs), or disruptions in epigenetic mechanisms such as DNA methylation. To address these gaps, we applied long-read PacBio HiFi genome sequencing (HiFi-GS) using a Revio system.