Article

Population-scale detection of methylation outliers from long-read genome sequencing

2026-06-11

Abstract excerpt

<h4>Background</h4> Aberrant DNA methylation can mediate the functional effects of rare genetic variation and contribute to imprinting disorders, repeat expansion diseases, and other pathogenic regulatory mechanisms. Long-read sequencing technologies now enable genome-wide detection of CpG methylation alongside genetic variation from a single assay. However, methods for systematic identification and interpretatio...

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Literature Corpus work: c731e0b8-e2b9-5b51-8425-ac00c77c2dba
DOI: 10.64898/2026.06.09.26355279

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