ArticleMolecular biology and evolution2020
Inference of Chromosome-Length Haplotypes Using Genomic Data of Three or a Few More Single Gametes.
Article in Molecular biology and evolution, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
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- Direct detection of meiotic recombination events in the highly heterozygous amphioxus genome.Advanced biotechnology · 2025Article
- Plant sperm cell sequencing for genome phasing and determination of meiotic crossover points.Nature protocols · 2025Review
- Haplotype-resolved assembly of a pig genome using single-sperm sequencing.Communications biology · 2024Article
- Chromosome-level genome and recombination map of the male buffalo.GigaScience · 2022Article
- Article
- sgcocaller and comapr: personalised haplotype assembly and comparative crossover map analysis using single-gamete sequencing data.Nucleic acids research · 2022Article
- Chromosome-scale and haplotype-resolved genome assembly of a tetraploid potato cultivar.Nature genetics · 2022Article
- gcaPDA: a haplotype-resolved diploid assembler.BMC bioinformatics · 2022Article
- Gamete binning: chromosome-level and haplotype-resolved genome assembly enabled by high-throughput single-cell sequencing of gamete genomes.Genome biology · 2020Article
- Co-transmission of Related Malaria Parasite Lineages Shapes Within-Host Parasite Diversity.Cell host & microbe · 2020Article
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Authors and funding
18 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Compared with genomic data of individual markers, haplotype data provide higher resolution for DNA variants, advancing our knowledge in genetics and evolution. Although many computational and experimental phasing methods have been developed for analyzing diploid genomes, it remains challenging to reconstruct chromosome-scale haplotypes at low cost, which constrains the utility of this valuable genetic resource. Gamete cells, the natural packaging of haploid complements, are ideal materials for phasing entire chromosomes because the majority of the haplotypic allele combinations has been preserved. Therefore, compared with the current diploid-based phasing methods, using haploid genomic data of single gametes may substantially reduce the complexity in inferring the donor's chromosomal haplotypes. In this study, we developed the first easy-to-use R package, Hapi, for inferring chromosome-length haplotypes of individual diploid genomes with only a few gametes. Hapi outperformed other phasing methods when analyzing both simulated and real single gamete cell sequencing data sets. The results also suggested that chromosome-scale haplotypes may be inferred by using as few as three gametes, which has pushed the boundary to its possible limit. The single gamete cell sequencing technology allied with the cost-effective Hapi method will make large-scale haplotype-based genetic studies feasible and affordable, promoting the use of haplotype data in a wide range of research.
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