ArticleGenome research2018
A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations.
Article in Genome research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
- Article
- [Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- Post-zygotic brain mosaicism as a result of partial reversion of pre-zygotic aneuploidy.Nature genetics · 2023Article
- Article
- Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.Nature communications · 2023Article
- The human brain through the lens of somatic mosaicism.Frontiers in neuroscience · 2023Review
- Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach.Human mutation · 2022Article
- Article
- A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.BMC neurology · 2021Article
- Sperm mosaicism: implications for genomic diversity and disease.Trends in genetics : TIG · 2021Review
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- Application of single cell genomics to focal epilepsies: A call to action.Brain pathology (Zurich, Switzerland) · 2021Review
- The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.Nature neuroscience · 2021Article
- Identification of Somatic Mutations From Bulk and Single-Cell Sequencing Data.Frontiers in aging · 2021Review
- Article
- MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals.Genomics, proteomics & bioinformatics · 2020Article
- Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The allele fraction (AF) distribution, occurrence rate, and evolutionary contribution of postzygotic single-nucleotide mosaicisms (pSNMs) remain largely unknown. In this study, we developed a mathematical model to describe the accumulation and AF drift of pSNMs during the development of multicellular organisms. By applying the model, we quantitatively analyzed two large-scale data sets of pSNMs identified from human genomes. We found that the postzygotic mutation rate per cell division during early embryogenesis, especially during the first cell division, was higher than the average mutation rate in either male or female gametes. We estimated that the stochastic cell death rate per cell cleavage during human embryogenesis was ∼5%, and parental pSNMs occurring during the first three cell divisions contributed to ∼10% of the de novo mutations observed in children. We further demonstrated that the genomic profiles of pSNMs could be used to measure the divergence distance between tissues. Our results highlight the importance of pSNMs in estimating recurrence risk and clarified the quantitative relationship between postzygotic and de novo mutations.
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