Published September 6, 2022
| Version v1
Dataset
Open
Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq
Authors/Creators
- 1. Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency
- 2. Terry Fox Laboratory, BC Cancer Agency
- 3. Department of Medical Genetics, Life Sciences Institute, University of British Columbia
- 4. Department of Molecular Oncology, BC Cancer
Description
Hundreds of loci in human genomes have alleles that are methylated differentially according to their parent of origin. These imprinted loci generally show little variation across tissues, individuals, and populations. We show that such loci can be used to distinguish the maternal and paternal homologs for all autosomes, without the need for the parental DNA. We integrate methylation-detecting nanopore sequencing with the long-range phase information in Strand-seq data to determine the parent of origin of chromosome-length haplotypes for both DNA sequence and DNA methylation in five trios with diverse genetic backgrounds.