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

Overall, our results indicate that PacBio LRS can reliably detect specific medically relevant methylation changes as well as genome-wide episignatures in rare disease patients.

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Publication Details

Journal
Genome Medicine
Published
2026-01-26
DOI
https://doi.org/10.1186/s13073-025-01506-9
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

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

Amber den Ouden, Gelana Khazeeva, Juliet E. Hampstead, Ronny Derks et al.
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Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing

Amber den Ouden, Gelana Khazeeva, Juliet E. Hampstead, Ronny Derks, Michelle de Groot, Simone van den Heuvel, Véronique Ivashchenko, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Alexander Hoischen, Christian Gilissen, Lisenka Vissers
article en

Abstract

Overall, our results indicate that PacBio LRS can reliably detect specific medically relevant methylation changes as well as genome-wide episignatures in rare disease patients.

Genome MedicineVol. 18(1)
Radboud University Nijmegen (NL), Radboud University Medical Center (NL), Radboud Institute for Molecular Life Sciences (NL), Hôpital Purpan (FR)
Zero hunger
Openalex Percentile: Top 72%
Genomics and Rare Diseases
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