Determinants of haplotype phasing accuracy in long-read human genome sequencing

Abstract excerpt

Accurate haplotype phasing is critical for interpreting human genetic variation. Long-read whole-genome sequencing has emerged as a powerful approach for read-based phasing, particularly where parental DNA is absent, yet the determinants of phasing accuracy remain incompletely defined. Here, we evaluate haplotype phasing performance across sequencing technology, reference genome, read length, and coverage depth us...

Topics

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• Algorithms
• Alleles
• Cell Line
• DNA Methylation
• Genome, Human
• Haplotypes
• Mutation
• Polymorphism, Single Nucleotide

Identifiers and source

Literature Corpus work

d21a699a-9d2a-578c-a63e-a7cbfd9de88e

DOI

10.64898/2026.05.04.722832