MethPhaser: methylation-based long-read haplotype phasing of human genomes

Abstract The assignment of variants across haplotypes, phasing, is crucial for predicting the consequences, interaction, and inheritance of mutations and is a key step in improving our understanding of phenotype and disease. However, phasing is limited by read length and stretches of homozygosity al...

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Bibliographic Details
Main Authors: Yilei Fu, Sergey Aganezov, Medhat Mahmoud, John Beaulaurier, Sissel Juul, Todd J. Treangen, Fritz J. Sedlazeck
Format: Article
Language:English
Published: Nature Portfolio 2024-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-49588-0