ArticleProceedings of the National Academy of Sciences of the United States of America2012
Extensive genetic variation in somatic human tissues.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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Who cites it
75 citing papers in PubMed.
- Article
- Redefining the Immunobiology of Organ Transplantation for New Clinical Horizons.Scandinavian journal of immunology · 2025Review
- Nonlethal deleterious mutation-induced stress accelerates bacterial aging.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Article
- Horizontal transmission of disseminated neoplasia in the widespread clam Macoma balthica from the Southern Baltic Sea.Molecular ecology · 2022Article
- Review
- The Impact of Acquired Genetic Abnormalities on the Clinical Translation of Human Pluripotent Stem Cells.Cells · 2021Review
- Genetics of autosomal mosaic chromosomal alteration (mCA).Journal of human genetics · 2021Review
- Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.The FEBS journal · 2021Review
- Comprehensive identification of somatic nucleotide variants in human brain tissue.Genome biology · 2021Article
- Mutations in normal tissues-some diagnostic and clinical implications.BMC medicine · 2020Review
- Review
- Stem Cell DNA Damage and Genome Mutation in the Context of Aging and Cancer Initiation.Cold Spring Harbor perspectives in biology · 2020Review
- Personalized and graph genomes reveal missing signal in epigenomic data.Genome biology · 2020Article
- Genetic and epigenetic Muller's ratchet as a mechanism of frailty and morbidity during aging: a demographic genetic model.Human genetics · 2020Article
- Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts.Aging cell · 2019Article
- Somatic mutations in the human brain: implications for psychiatric research.Molecular psychiatry · 2019Review
- Modeling Spatial Correlation of Transcripts with Application to Developing Pancreas.Scientific reports · 2019Article
- Current and future perspectives of liquid biopsies in genomics-driven oncology.Nature reviews. Genetics · 2019Review
- The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels.American journal of human genetics · 2018Article
15 more citing papers are in PubMed but not listed here.
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5 authors.
Funding
Abstract
Genetic variation between individuals has been extensively investigated, but differences between tissues within individuals are far less understood. It is commonly assumed that all healthy cells that arise from the same zygote possess the same genomic content, with a few known exceptions in the immune system and germ line. However, a growing body of evidence shows that genomic variation exists between differentiated tissues. We investigated the scope of somatic genomic variation between tissues within humans. Analysis of copy number variation by high-resolution array-comparative genomic hybridization in diverse tissues from six unrelated subjects reveals a significant number of intraindividual genomic changes between tissues. Many (79%) of these events affect genes. Our results have important consequences for understanding normal genetic and phenotypic variation within individuals, and they have significant implications for both the etiology of genetic diseases such as cancer and for immortalized cell lines that might be used in research and therapeutics.
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