ArticleNature communications2025
Direct measurement of the male germline mutation rate in individuals using sequential sperm samples.
Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The trial behind it
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Who cites it
12 citing papers in PubMed.
- Sequence effects on mutation rates investigated in whole-genome sequenced UK Biobank participants.G3 (Bethesda, Md.) · 2026Article
- Article
- Article
- What sets the mutation rate of a cell type in an animal species?PLoS biology · 2026Article
- Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.Nature communications · 2026Article
- Matched whole-genome sequencing of blood (10×) and five single sperm cells (1×) per individual in 53 men.Scientific data · 2026Article
- Scalable and comprehensive mosaic variant calling using DRAGEN.medRxiv : the preprint server for health sciences · 2026Article
- Recent Progress in Characterizing Germline Mutations and Their Transmission Across Generations.Advances in experimental medicine and biology · 2026Review
- What sets the mutation rate of a cell type in an animal species?bioRxiv : the preprint server for biology · 2025Article
- Divergent somatic mutation patterns among human cerebellar neuron types.bioRxiv : the preprint server for biology · 2025Article
- Improved Mutation Detection in Duplex Sequencing Data with Sample-Specific Error Profiles.bioRxiv : the preprint server for biology · 2025Article
- Chemotherapy and the somatic mutation burden of sperm.JCI insight · 2025Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
Mutations that accumulate in the human male germline with age are a major driver of genetic diversity and contribute to genetic diseases. However, aging-related male germline mutation rates have not been measured directly in germline cells (sperm) at the level of individuals. We developed a study design in which we recalled 23 sperm donors with prior banked samples to provide new sperm samples. The old and new sequential sperm samples were separated by long timespans, ranging from 10 to 33 years. We profiled these samples by high-fidelity duplex sequencing and demonstrate that direct high-fidelity sequencing of sperm yields cohort-wide mutation rates and patterns consistent with prior family-based (trio) studies. In every individual, we detected an increase in sperm mutation burden between the two sequential samples, yielding individual-specific measurements of germline mutation rate. Deep whole-genome sequencing of sequential sperm samples from two individuals followed by targeted validation measured remarkably stable mosaicism of clonal mutations that likely arose during embryonic and germline development, suggesting that age did not substantially impact the diversity of spermatogonial stem cell pools in these individuals. Our application of high-fidelity and deep whole-genome sequencing to sequential sperm samples provides insight into aging-related mutation processes in the male germline.
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