ReviewHuman genomics2016
Major influence of repetitive elements on disease-associated copy number variants (CNVs).
Review in Human genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Article
- Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.Molecular neurobiology · 2026Article
- Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.Research square · 2025Article
- Template switching during DNA replication is a prevalent source of adaptive gene amplification.eLife · 2025Article
- Template switching during DNA replication is a prevalent source of adaptive gene amplification.bioRxiv : the preprint server for biology · 2024Article
- Investigating the origin of subtelomeric and centromeric AT-rich elements in Aspergillus flavus.PloS one · 2023Article
- Transgenic mice harboring direct repeat substrates reveal key underlying causes of homologous recombination in vivo.DNA repair · 2022Review
- Extensive genome-wide duplications in the eastern oyster (Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2021Article
- Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2020Article
- The Developmental Gene Hypothesis for Punctuated Equilibrium: Combined Roles of Developmental Regulatory Genes and Transposable Elements.BioEssays : news and reviews in molecular, cellular and developmental biology · 2020Review
- RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions.Scientific reports · 2019Article
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Does copy number variation of APOL1 gene affect the susceptibility to focal segmental glomerulosclerosis?Renal failure · 2017Article
- Molecular characterization of cell-free eccDNAs in human plasma.Scientific reports · 2017Article
- Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.American journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) or non-homologous end joining (NHEJ). Here, we present a short guide based on previously documented cases of disease-associated CNVs in order to provide a general view on the impact of repeated elements on the stability of the genomic sequence and consequently in the origin of the human pathogenic variome.
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