Long‐read sequencing reveals genomic and epigenomic variation in the dark genome of human Alzheimer's disease

Long-read sequencing enables analysis of "dark" regions Alzheimer's disease brains Somatic AluY retrotransposon insertions may be elevated in late-stage disease Retrotransposon-associated non-allelic homologous recombination (NAHR) is enriched in repetitive regions in early disease DNA demethylation within the centro/pericentromere and ribosomal DNA (rDNA) occur across disease stage Dark regions of risk genes are differentially methylated across disease stage.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2025-11-01
DOI
https://doi.org/10.1002/alz.70852
Citations
2
Primary Topic
Epigenetics and DNA Methylation
Type
article
Field-Weighted Citation Impact
1.61

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Long‐read sequencing reveals genomic and epigenomic variation in the dark genome of human Alzheimer's disease

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Epigenetics and DNA Methylation
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Long‐read sequencing reveals genomic and epigenomic variation in the dark genome of human Alzheimer's disease

Wenyan Sun, Kevin F. Bieniek, Bess Frost, Giovanni Pascarella, Bernard Fongang, Habil Zare, Piero Carninci, Shiva Kazempour Dehkordi, Paulino Ramirez
article en
2 citations

Abstract

Long-read sequencing enables analysis of "dark" regions Alzheimer's disease brains Somatic AluY retrotransposon insertions may be elevated in late-stage disease Retrotransposon-associated non-allelic homologous recombination (NAHR) is enriched in repetitive regions in early disease DNA demethylation within the centro/pericentromere and ribosomal DNA (rDNA) occur across disease stage Dark regions of risk genes are differentially methylated across disease stage.

Alzheimer s & DementiaVol. 21(11)
Tulane University (US), Texas A&M University – San Antonio (US), The University of Texas at San Antonio Health Science Center (US), Brown University (US), Longevity Biotech (United States) (US), Institute for Neurodegenerative Disorders (US), RIKEN Center for Integrative Medical Sciences (JP), The University of Texas at San Antonio (US)
BrightFocus Foundation, University of Texas at Austin, National Institutes of Health, Department of Mechanical Engineering, University of Texas at Austin, University of California, Davis, National Institute on Aging, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, Genome Center, University of California, Davis
Openalex Percentile: Top 14%
Epigenetics and DNA Methylation
1.61
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