ArticleCell2012
Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm.
Article in Cell, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 258 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
258 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Effect of paternal age on offspring birth defects: a systematic review and meta-analysis.Aging · 2020Pooled it
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- Single-cell RNA-sequencing profiles reveal the developmental landscape of hawthorn leaves.BMC plant biology · 2026Article
- Natural transformation drives large-scale genome mosaicism in human gut bifidobacteria.The ISME journal · 2026Article
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- Population-wide single-pollen nuclei genotyping in rye sheds light on the genetic basis and environmental plasticity of meiotic recombination.The New phytologist · 2026Article
- What sets the mutation rate of a cell type in an animal species?bioRxiv : the preprint server for biology · 2025Article
- Human acrocentric chromosome short armbioRxiv : the preprint server for biology · 2025Article
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- Applications of nanomaterials in head and neck squamous cell carcinoma: current progress and perspectives.Discover nano · 2025Review
- Cell sorting based on single nucleotide variation enables characterization of mutation-dependent transcriptome and chromatin states.Nucleic acids research · 2025Article
- Single-cell omics in plant biology: mechanistic insights and applications for crop improvement.Advanced biotechnology · 2025Review
- Non-Invasive Preimplantation Genetic Testing.Genes · 2025Review
- From morphology to single-cell molecules: high-resolution 3D histology in biomedicine.Molecular cancer · 2025Review
- Single-cell omics: experimental workflow, data analyses and applications.Science China. Life sciences · 2025Review
- Article
- Single-cell multi-omics in the study of digestive system cancers.Computational and structural biotechnology journal · 2024Review
- Forward-in-time simulation of chromosomal rearrangements: The invisible backbone that sustains long-term adaptation.Molecular ecology · 2024Article
- Frequency and spectrum of mutations in human sperm measured using duplex sequencing correlate with trio-based de novo mutation analyses.Scientific reports · 2024Article
198 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Meiotic recombination and de novo mutation are the two main contributions toward gamete genome diversity, and many questions remain about how an individual human's genome is edited by these two processes. Here, we describe a high-throughput method for single-cell whole-genome analysis that was used to measure the genomic diversity in one individual's gamete genomes. A microfluidic system was used for highly parallel sample processing and to minimize nonspecific amplification. High-density genotyping results from 91 single cells were used to create a personal recombination map, which was consistent with population-wide data at low resolution but revealed significant differences from pedigree data at higher resolution. We used the data to test for meiotic drive and found evidence for gene conversion. High-throughput sequencing on 31 single cells was used to measure the frequency of large-scale genome instability, and deeper sequencing of eight single cells revealed de novo mutation rates with distinct characteristics.
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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.