Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Methods Mol Biol. 2023;2590:219-235. doi: 10.1007/978-1-0716-2819-5_14.
Haplotyping enables the study of allele-specific events. Heterozygous variants, primarily single nucleotide variants (SNVs), enable the assignment of the paternal and maternal origin of the chromosomes and are widely employed to phase sequencing reads to their haplotype of origin. Certain long-read technologies enable the detection of both the DNA sequence and DNA modifications. These long reads and their inherent methylation information are suitable for genome-wide haplotyping and allele-specific DNA methylation analysis. Here, we describe the workflow to phase reads and DNA methylation using nanopore sequencing.
单体型分析可研究等位基因特异性事件。杂合变体(主要是单核苷酸变体)可确定染色体的父本和母本来源,广泛用于将测序reads 分配到其原始单体型。某些长读长技术可同时检测 DNA 序列和 DNA 修饰。这些长读长及其固有的甲基化信息适用于全基因组单体型分析和等位基因特异性 DNA 甲基化分析。在此,我们描述了使用纳米孔测序进行读长和 DNA 甲基化分析的工作流程。