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Article

epialleleR: an R/Bioconductor package for sensitive allele-specific methylation analysis in NGS data.

GigaScience - 28 Dec 2022

Nikolaienko Oleksii, Lønning Per Eystein, Knappskog Stian

Abstract excerpt

Low-level mosaic epimutations within the BRCA1 gene promoter occur in 5-8% of healthy individuals and are associated with a significantly elevated risk of breast and ovarian cancer. Similar events may also affect other tumor suppressor genes, potentially being a significant contributor to cancer burden. While this opens a new area for translational research, detection of low-level mosaic epigenetic events...

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Identifiers

PMID: 37919976
DOI: 10.1093/gigascience/giad087
PMCID: PMC10622323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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