ArticleGenome research2013
Sequencing of isolated sperm cells for direct haplotyping of a human genome.
Article in Genome research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed.
- NOX2 Contributes to High-Frequency Outer Hair Cell Vulnerability in the Cochlea.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Single-cell cloning and its approaches.Frontiers in cell and developmental biology · 2025Review
- Haplotype-resolved assembly of a pig genome using single-sperm sequencing.Communications biology · 2024Article
- Review
- Long-read whole-genome analysis of human single cells.Nature communications · 2023Article
- sgcocaller and comapr: personalised haplotype assembly and comparative crossover map analysis using single-gamete sequencing data.Nucleic acids research · 2022Article
- RecombineX: A generalized computational framework for automatic high-throughput gamete genotyping and tetrad-based recombination analysis.PLoS genetics · 2022Article
- Isolation and sequencing of a single copy of an introgressed chromosome from a complex genome for gene and SNP identification.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2022Article
- Chromosome-scale and haplotype-resolved genome assembly of a tetraploid potato cultivar.Nature genetics · 2022Article
- Using single-cell sequencing technology to detect circulating tumor cells in solid tumors.Molecular cancer · 2021Review
- Cataloguing experimentally confirmed 80.7 kb-long ACKR1 haplotypes from the 1000 Genomes Project database.BMC bioinformatics · 2021Article
- Personalized genome structure via single gamete sequencing.Genome biology · 2021Review
- Sycp1 Is Not Required for Subtelomeric DNA Double-Strand Breaks but Is Required for Homologous Alignment in Zebrafish Spermatocytes.Frontiers in cell and developmental biology · 2021Article
- Gamete binning: chromosome-level and haplotype-resolved genome assembly enabled by high-throughput single-cell sequencing of gamete genomes.Genome biology · 2020Article
- Inference of Chromosome-Length Haplotypes Using Genomic Data of Three or a Few More Single Gametes.Molecular biology and evolution · 2020Article
- Article
- SNP-Density Crossover Maps of Polymorphic Transposable Elements and HLA Genes Within MHC Class I Haplotype Blocks and Junction.Frontiers in genetics · 2020Article
- Crossover interference and sex-specific genetic maps shape identical by descent sharing in close relatives.PLoS genetics · 2019Article
- Single-pollen-cell sequencing for gamete-based phased diploid genome assembly in plants.Genome research · 2019Article
- Multi-platform discovery of haplotype-resolved structural variation in human genomes.Nature communications · 2019Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There is increasing evidence that the phenotypic effects of genomic sequence variants are best understood in terms of variant haplotypes rather than as isolated polymorphisms. Haplotype analysis is also critically important for uncovering population histories and for the study of evolutionary genetics. Although the sequencing of individual human genomes to reveal personal collections of sequence variants is now well established, there has been slower progress in the phasing of these variants into pairs of haplotypes along each pair of chromosomes. Here, we have developed a distinct approach to haplotyping that can yield chromosome-length haplotypes, including the vast majority of heterozygous single-nucleotide polymorphisms (SNPs) in an individual human genome. This approach exploits the haploid nature of sperm cells and employs a combination of genotyping and low-coverage sequencing on a short-read platform. In addition to generating chromosome-length haplotypes, the approach can directly identify recombination events (averaging 1.1 per chromosome) with a median resolution of <100 kb.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.