ReviewPhysiological genomics2013
Current analysis platforms and methods for detecting copy number variation.
Review in Physiological genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis 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.
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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
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- The Pan-Tumor Landscape of Gene Amplifications and Copy Number Amplification Ratio for Established and Emerging Clinical Targets.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- The importance and clinical utility of reanalysis of exome and genome sequencing data.Kidney research and clinical practice · 2026Article
- Genetic diversity and reproductive trait selection signal analysis of Bohuai goats based on whole genome sequencing.BMC genomics · 2025Article
- Population-level gene copy number variations reveal distinct genetic properties of different Malus species.BMC genomics · 2025Article
- Genome-wide association study of copy number variations in Parkinson's disease.medRxiv : the preprint server for health sciences · 2025Article
- Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort.Computational and structural biotechnology journal · 2025Article
- Analytical Validation and Performance Evaluation of Amplicon-Based Next-Generation Sequencing Assays for DetectingCancers · 2024Article
- Copy number variations at theFrontiers in plant science · 2024Article
- Detection of trait-associated structural variations using short-read sequencing.Cell genomics · 2023Article
- A Review of Radiation-Induced Alterations of Multi-Omic Profiles, Radiation Injury Biomarkers, and Countermeasures.Radiation research · 2023Review
- Whole genome sequencing-based copy number variations reveal novel pathways and targets in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Increasing calling accuracy, coverage, and read-depth in sequence data by the use of haplotype blocks.PLoS genetics · 2021Article
- CNVIntegrate: the first multi-ethnic database for identifying copy number variations associated with cancer.Database : the journal of biological databases and curation · 2021Article
- Copy number alteration profiling facilitates differential diagnosis between ossifying fibroma and fibrous dysplasia of the jaws.International journal of oral science · 2021Article
- Genomic Copy Number Variation Study of Nine Macaca Species Provides New Insights into Their Genetic Divergence, Adaptation, and Biomedical Application.Genome biology and evolution · 2020Article
- Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition.Molecular genetics and metabolism reports · 2020Article
- Understanding genomics and the immune environment of penile cancer to improve therapy.Nature reviews. Urology · 2020Review
- Genetic architecture of Alzheimer's disease.Neurobiology of disease · 2020Review
- Assessing the performance of methods for copy number aberration detection from single-cell DNA sequencing data.PLoS computational biology · 2020Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Copy number variation (CNV), generated through duplication or deletion events that affect one or more loci, is widespread in the human genomes and is often associated with functional consequences that may include changes in gene expression levels or fusion of genes. Genome-wide association studies indicate that some disease phenotypes and physiological pathways might be impacted by CNV in a small number of characterized genomic regions. However, the pervasiveness and full impact of such variation remains unclear. Suitable analytic methods are needed to thoroughly mine human genomes for genomic structural variation, and to explore the interplay between observed CNV and disease phenotypes, but many medical researchers are unfamiliar with the features and nuances of recently developed technologies for detecting CNV. In this article, we evaluate a suite of commonly used and recently developed approaches to uncovering genome-wide CNVs and discuss the relative merits of each.
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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.