ReviewBriefings in functional genomics2015
The impact of human copy number variation on gene expression.
Review in Briefings in functional genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 2 of them syntheses that pooled it.
What it found
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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
81 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Polymorphic variants and risk of diabetic peripheral neuropathy in patients with type 2 diabetes mellitus: systematic review and meta-analysis.BMC endocrine disorders · 2025Pooled it
- What genes are differentially expressed in individuals with schizophrenia? A systematic review.Molecular psychiatry · 2022Pooled it
- Exploring copy number alterations (CNAs) to gain new insight into SCLC heterogeneity.Molecular biology reports · 2026Review
- Robust and generalizable CNV detection for single-cell sequencing assays.Nucleic acids research · 2026Article
- Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients.Biomedicines · 2026Article
- Repeated implantation failures and infertility in patients are strongly associated with elevated integrin B3 due to endometrial copy number variation.Reproduction & fertility · 2026Article
- Extending differential gene expression testing to handle genome aneuploidy in cancer.PLoS computational biology · 2026Article
- Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis.Human genetics · 2026Article
- Genome-wide characterization of copy number variants and their functional relevance in indigenous draught cattle of South Asia.PloS one · 2026Article
- Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.medRxiv : the preprint server for health sciences · 2025Article
- cfOncoXpress: Tumor gene expression prediction from cell-free DNA whole-genome sequences.bioRxiv : the preprint server for biology · 2025Article
- Genome-Wide Analyses of Copy Number Variants in 751 Populus trichocarpa Individuals From Natural Populations.Genome biology and evolution · 2025Article
- Downregulation of UDP-glucose 6-dehydrogenase predicts adverse outcomes in patients with colorectal cancer and promotes tumorigenesis.Scientific reports · 2025Article
- Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.NPJ genomic medicine · 2025Article
- Cataloging copy number variation regions and allied diversity in goat breeds spanning pan India.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Copy Number Variations of theGenes · 2025Article
- Genomic structural variation contributes to evolved changes in gene expression in high-altitude Tibetan sheep.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.BMC genomics · 2024Article
- Investigating structural variant, indel and single nucleotide polymorphism differentiation between locally adapted Atlantic salmon populations.Evolutionary applications · 2024Article
- Identify Candidate Genes Associated with the Weight and Egg Quality Traits in Wenshui Green Shell-Laying Chickens by the Copy Number Variation-Based Genome-Wide Association Study.Veterinary sciences · 2024Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Recent years have witnessed a flurry of important technological and methodological developments in the discovery and analysis of copy number variations (CNVs), which are increasingly enabling the systematic evaluation of their impact on a broad range of phenotypes from molecular-level (intermediate) traits to higher-order clinical phenotypes. Like single nucleotide variants in the human genome, CNVs have been linked to complex traits in humans, including disease and drug response. These recent developments underscore the importance of incorporating complex forms of genetic variation into disease mapping studies and promise to transform our understanding of genome function and the genetic basis of disease. Here we review some of the findings that have emerged from transcriptome studies of CNVs facilitated by the rapid advances in -omics technologies and corresponding methodologies.
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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.