An effective strategy for assembling the sex-limited chromosome

Gigascience. 2024 Jan 2:13:giae015. doi: 10.1093/gigascience/giae015.

Abstract

Background: Most currently available reference genomes lack the sequence map of sex-limited (such as Y and W) chromosomes, which results in incomplete assemblies that hinder further research on sex chromosomes. Recent advancements in long-read sequencing and population sequencing have provided the opportunity to assemble sex-limited chromosomes without the traditional complicated experimental efforts.

Findings: We introduce the first computational method, Sorting long Reads of Y or other sex-limited chromosome (SRY), which achieves improved assembly results compared to flow sorting. Specifically, SRY outperforms in the heterochromatic region and demonstrates comparable performance in other regions. Furthermore, SRY enhances the capabilities of the hybrid assembly software, resulting in improved continuity and accuracy.

Conclusions: Our method enables true complete genome assembly and facilitates downstream research of sex-limited chromosomes.

Keywords: assembly method; long-read sorting; sex-limited chromosome.

MeSH terms

  • Genome*
  • High-Throughput Nucleotide Sequencing / methods
  • Sequence Analysis, DNA / methods
  • Sex Chromosomes* / genetics