ArticleFrontiers in genetics2013
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.
Article in Frontiers in genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.Molecular psychiatry · 2021Pooled it
- Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.Molecular syndromology · 2026Article
- A convolutional attention model classifies copy number variants from whole exome sequencing.Scientific reports · 2026Article
- Genetic diversity and reproductive trait selection signal analysis of Bohuai goats based on whole genome sequencing.BMC genomics · 2025Article
- Genome-wide copy number variation association study in anorexia nervosa.Molecular psychiatry · 2025Article
- Article
- Detection of germline CNVs from gene panel data: benchmarking the state of the art.Briefings in bioinformatics · 2024Article
- A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.NAR genomics and bioinformatics · 2024Article
- Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.BMC genomics · 2024Article
- CNVs Associated with Different Clinical Phenotypes of Psoriasis and Anti-TNF-Induced Palmoplantar Pustulosis.Journal of personalized medicine · 2022Article
- MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia · 2022Article
- The individual and global impact of copy-number variants on complex human traits.American journal of human genetics · 2022Article
- Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data.BMC genomics · 2021Article
- DNA Copy Number Variation Associated with Anti-tumour Necrosis Factor Drug Response and Paradoxical Psoriasiform Reactions in Patients with Moderate-to-severe Psoriasis.Acta dermato-venereologica · 2021Article
- ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.Genome medicine · 2021Article
- Identification of Tumor Antigens and Immune Landscape in Glioblastoma for mRNA Vaccine Development.Frontiers in genetics · 2021Article
- Article
- PartialJournal of lipid research · 2019Article
- Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing.International journal of molecular sciences · 2019Article
- Article
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5 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Differences between genomes can be due to single nucleotide variants, translocations, inversions, and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 500 kb are strongly associated with morbid consequences such as developmental disorders and cancer. Detecting CNVs within and between populations is essential to better understand the plasticity of our genome and to elucidate its possible contribution to disease. Hence there is a need for better-tailored and more robust tools for the detection and genome-wide analyses of CNVs. While a link between a given CNV and a disease may have often been established, the relative CNV contribution to disease progression and impact on drug response is not necessarily understood. In this review we discuss the progress, challenges, and limitations that occur at different stages of CNV analysis from the detection (using DNA microarrays and next-generation sequencing) and identification of recurrent CNVs to the association with phenotypes. We emphasize the importance of germline CNVs and propose strategies to aid clinicians to better interpret structural variations and assess their clinical implications.
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