Long-read-based single sperm genome sequencing for chromosome-wide haplotype phasing of both SNPs and SVs.

ABSTRACT: Although localized haploid phasing can be achieved using long read genome sequencing without parental data, reliable chromosome-scale phasing remains a great challenge. Given that sperm is a natural haploid cell, single-sperm genome sequencing can provide a chromosome-wide phase signal. Due to the limitation of read length, current short-read-based single-sperm genome sequencing methods can only achieve SNP haplotyping and come with difficulties in detecting and haplotyping structural variations (SVs) in complex genomic regions. To overcome these limitations, we developed a long-read-based single-sperm genome sequencing method and a corresponding data analysis pipeline that can accurately identify crossover events and chromosomal level aneuploidies in single sperm and efficiently detect SV

SUBMITTER: Xie H 

PROVIDER: S-EPMC10450174 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature