ArticleCell research2014
Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals.
Article in Cell research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 61 citations in OpenAlex.
- Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.Nature communications · 2026Article
- Accurate detection of somatic single-nucleotide variants from bulk RNA-seq data using RNA-MosaicHunter.Nucleic acids research · 2026Article
- Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.Journal of neurology · 2024Article
- A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.Genetics · 2024Article
- A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.medRxiv : the preprint server for health sciences · 2024Article
- Functional landscape of genome-wide postzygotic somatic mutations between monozygotic twins.DNA research : an international journal for rapid publication of reports on genes and genomes · 2024Article
- Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia.bioRxiv : the preprint server for biology · 2024Article
- Control-independent mosaic single nucleotide variant detection with DeepMosaic.Nature biotechnology · 2023Article
- High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.Molecular genetics & genomic medicine · 2022Article
- Review
- Identification of Somatic Mutations From Bulk and Single-Cell Sequencing Data.Frontiers in aging · 2021Review
- Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability.Genome research · 2020Article
- The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.Genome medicine · 2020Article
- Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.The Journal of molecular diagnostics : JMD · 2020Article
- MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals.Genomics, proteomics & bioinformatics · 2020Article
- Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.Genome medicine · 2019Article
- Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.Molecular genetics & genomic medicine · 2019Article
- Somatic mutations in the human brain: implications for psychiatric research.Molecular psychiatry · 2019Review
Corrections and comments
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Authors and funding
20 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Postzygotic single-nucleotide mutations (pSNMs) have been studied in cancer and a few other overgrowth human disorders at whole-genome scale and found to play critical roles. However, in clinically unremarkable individuals, pSNMs have never been identified at whole-genome scale largely due to technical difficulties and lack of matched control tissue samples, and thus the genome-wide characteristics of pSNMs remain unknown. We developed a new Bayesian-based mosaic genotyper and a series of effective error filters, using which we were able to identify 17 SNM sites from ~80× whole-genome sequencing of peripheral blood DNAs from three clinically unremarkable adults. The pSNMs were thoroughly validated using pyrosequencing, Sanger sequencing of individual cloned fragments, and multiplex ligation-dependent probe amplification. The mutant allele fraction ranged from 5%-31%. We found that C→T and C→A were the predominant types of postzygotic mutations, similar to the somatic mutation profile in tumor tissues. Simulation data showed that the overall mutation rate was an order of magnitude lower than that in cancer. We detected varied allele fractions of the pSNMs among multiple samples obtained from the same individuals, including blood, saliva, hair follicle, buccal mucosa, urine, and semen samples, indicating that pSNMs could affect multiple sources of somatic cells as well as germ cells. Two of the adults have children who were diagnosed with Dravet syndrome. We identified two non-synonymous pSNMs in SCN1A, a causal gene for Dravet syndrome, from these two unrelated adults and found that the mutant alleles were transmitted to their children, highlighting the clinical importance of detecting pSNMs in genetic counseling.
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