ArticleBMC genomics2015
Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome.
Article in BMC genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- High resolution genome-wide SNP array analyses on matched colorectal-based lung and brain metastases.Journal of cancer research and clinical oncology · 2026Article
- Genomic Mosaicism of the Brain: Origin, Impact, and Utility.Neuroscience bulletin · 2024Review
- SNP array genomic analysis of matched pairs of brain and liver metastases in primary colorectal cancer.Journal of cancer research and clinical oncology · 2023Article
- High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients.Frontiers in genetics · 2023Article
- Analyzing the Spatial Randomness in the Distribution of Acquired Melanocytic Neoplasms.The Journal of investigative dermatology · 2022Article
- Chimeric chromosome landscapes of human somatic cell cultures show dependence on stress and regulation of genomic repeats by CGGBP1.Oncotarget · 2022Article
- Somatic mosaicism in inherited bone marrow failure syndromes.Best practice & research. Clinical haematology · 2021Review
- Genetics for paediatric radiologists.Pediatric radiology · 2020Review
- A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15.International journal of molecular sciences · 2020Review
- Performance of four modern whole genome amplification methods for copy number variant detection in single cells.Scientific reports · 2017Article
- iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Mosaicism in health and disease - clones picking up speed.Nature reviews. Genetics · 2017Review
- Genomic structural variations for cardiovascular and metabolic comorbidity.Scientific reports · 2017Article
- Imprinted genes and imprinting control regions show predominant intermediate methylation in adult somatic tissues.Epigenomics · 2016Article
- The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement.Scientific reports · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSomatic mosaicism denotes the presence of genetically distinct populations of somatic cells in one individual who has developed from a single fertilised oocyte. Mosaicism may result from a mutation that occurs during postzygotic development and is propagated to only a subset of the adult cells. Our aim was to investigate both somatic mosaicism for copy-neutral loss of heterozygosity (cn-LOH) events and DNA copy number variations (CNVs) in fully differentiated tissues.
resultsWe studied panels of tissue samples (11-12 tissues per individual) from four autopsy subjects using high-resolution Illumina HumanOmniExpress-12 BeadChips to reveal the presence of possible intra-individual tissue-specific cn-LOH and CNV patterns. We detected five mosaic cn-LOH regions >5 Mb in some tissue samples in three out of four individuals. We also detected three CNVs that affected only a portion of the tissues studied in one out of four individuals. These three somatic CNVs range from 123 to 796 kb and are also found in the general population. An attempt was made to explain the succession of genomic events that led to the observed somatic genetic mosaicism under the assumption that the specific mosaic patterns of CNV and cn-LOH changes reflect their formation during the postzygotic embryonic development of germinal layers and organ systems.
conclusionsOur results give further support to the idea that somatic mosaicism for CNVs, and also cn-LOHs, is a common phenomenon in phenotypically normal humans. Thus, the examination of only a single tissue might not provide enough information to diagnose potentially deleterious CNVs within an individual. During routine CNV and cn-LOH analysis, DNA derived from a buccal swab can be used in addition to blood DNA to get information about the CNV/cn-LOH content in tissues of both mesodermal and ectodermal origin. Currently, the real frequency and possible phenotypic consequences of both CNVs and cn-LOHs that display somatic mosaicism remain largely unknown. To answer these questions, future studies should involve larger cohorts of individuals and a range of tissues.
Indexed as
Identifiers
What OpenQuestion holds
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.