Methylation-aware long-read phasing significantly improves genome-wide haplotype reconstruction

Abstract excerpt

Haplotypes are linear sequences of co-inherited alleles along individual chromosomes and are central to genetic mapping, clinical variant interpretation, and inference of population history. However, accurate genome-wide haplotype reconstruction remains challenging. Long-read sequencing has the potential to dramatically improve haplotype inference, but existing methods do not directly leverage all the information...

Topics

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• Cell Line
• DNA Methylation
• Genome, Human
• Haplotypes
• High-Throughput Nucleotide Sequencing
• Mutation
• Polymorphism, Single Nucleotide
• Sequence Analysis, DNA

Identifiers and source

Literature Corpus work

b48bdd91-9a31-574c-acee-1cef31b51321

DOI

10.64898/2026.03.11.710820