Simultaneous de novo calling and phasing of genetic variants at chromosome-scale using NanoStrand-seq.

ABSTRACT: The successful accomplishment of the first telomere-to-telomere human genome assembly, T2T-CHM13, marked a milestone in achieving completeness of the human reference genome. The upcoming era of genome study will focus on fully phased diploid genome assembly, with an emphasis on genetic differences between individual haplotypes. Most existing sequencing approaches only achieved localized haplotype phasing and relied on additional pedigree information for further whole-chromosome scale phasing. The short-read-based Strand-seq method is able to directly phase single nucleotide polymorphisms (SNPs) at whole-chromosome scale but falls short when it comes to phasing structural variations (SVs). To shed light on this issue, we developed a Nanopore sequencing platform-based Strand-seq approach, wh

SUBMITTER: Bai X 

PROVIDER: S-EPMC11231365 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature