Haplotype-resolved assembly of a pig genome using single-sperm sequencing.
Yongchao NiuXinhao FanYalan YangJiang LiJinmin LianLiu WangYongjin ZhangYijie TangZhonglin TangPublished in: Communications biology (2024)
Single gamete cell sequencing together with long-read sequencing can reliably produce chromosome-level phased genomes. In this study, we employed PacBio HiFi and Hi-C sequencing on a male Landrace pig, coupled with single-sperm sequencing of its 102 sperm cells. A haplotype assembly method was developed based on long-read sequencing and sperm-phased markers. The chromosome-level phased assembly showed higher phasing accuracy than methods that rely only on HiFi reads. The use of single-sperm sequencing data enabled the construction of a genetic map, successfully mapping the sperm motility trait to a specific region on chromosome 1 (105.40-110.70 Mb). Furthermore, with the assistance of Y chromosome-bearing sperm data, 26.16 Mb Y chromosome sequences were assembled. We report a reliable approach for assembling chromosome-level phased genomes and reveal the potential of sperm population in basic biology research and sperm phenotype research.
Keyphrases
- single cell
- copy number
- genome wide
- induced apoptosis
- escherichia coli
- stem cells
- machine learning
- single molecule
- risk assessment
- big data
- signaling pathway
- pseudomonas aeruginosa
- cell therapy
- bone marrow
- cell proliferation
- cystic fibrosis
- climate change
- deep learning
- data analysis
- biofilm formation
- staphylococcus aureus
- high density