Haplotype-resolved DNA methylation at the APOE locus identifies allele-specific epigenetic signatures relevant to Alzheimer's disease risk


Genner et al. used Oxford Nanopore sequencing to map allele-specific methylation at the APOE locus — a gene central to Alzheimer’s disease risk — in postmortem brain research samples. They uncovered novel haplotype-resolved methylation signatures without the need for bisulfite conversion, far surpassing short-read methods. This study showcases the power of nanopore sequencing for high-resolution, phased epigenetic analysis in neurodegenerative disease research.

‘Our findings highlight the power of ONT LRS for identifying allele-specific methylation patterns at functionally important loci’

Genner et al. 2025

Sample type: human brain tissue

Kit: Ligation Sequencing Kit

Authors: Rylee M. Genner, Melissa Meredith, Abraham Moller, Cory Weller, Kensuke Daida, Alexis Ayuketah, Pilar Alvarez Jerez, Stuart Akeson, Laksh Malik, Breeana Baker, Cedric Kouam, Kimberly Paquette, Stefano Marenco, Pavan Auluck, Ajeet Mandal, Benedict Paten, Xylena Reed, Miten Jain, Mark R. Cookson, Andrew B. Singleton, Mike Nalls, Cornelis Blauwendraat, Kimberley J. Billingsley