The assignment of genetic variants to the two copies of the genome present in cells (phasing) is crucial for predicting the consequences, interaction and inheritance of variants, but is limited by the length of sequencing reads and stretches of homozygosity in the genome. Here the authors develop a method that utilizes DNA methylation signals from Oxford Nanopore Technologies sequencing data to improve phasing.
- Yilei Fu
- Sergey Aganezov
- Fritz J. Sedlazeck
