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

Genetics in Medicine Open 2026 Open access

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Authors: Eunjee Lee, Joseph M. Devaney, Jessime M. Kirk, Duncan Kilburn, Jessica Noya, Laure Frésard, Soroush Samadian, Jessica X. Chong, Andrew Stergachis, Chia‐Lin Wei, Michael J. Bamshad, Timothy Laurent
+3 more Flavia M. Facio, Vincent D. Ustach, Keith Nykamp
DOI: 10.1016/j.gimo.2026.103619
Cited by: 0

Abstract

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.

Fields of Study & Subjects

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genomics and Phylogenetic Studies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103619–103619
Publication date
1 January 2026
Language
EN