Article

MethPhaser: methylation-based haplotype phasing of human genomes

2023-05-14

Abstract excerpt

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 along the genome. To overcome this limitation, we designed MethPhaser, the first method that utilizes methylation signals from O...

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Literature Corpus work: 3c319445-91a0-51dc-9154-7236c9730dad
DOI: 10.1101/2023.05.12.540573

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