ReviewGenomics2009
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis.
Review in Genomics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 1 of them a synthesis that pooled it.
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
103 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genomic Markers Associated with Cytomegalovirus DNAemia in Kidney Transplant Recipients.Viruses · 2023Pooled it
- Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models.Cell genomics · 2026Review
- The inverse relationship between copy number variation burden and age of onset of metabolic syndrome in Korean middle-aged adults.BMC medical genomics · 2026Article
- Repeated implantation failures and infertility in patients are strongly associated with elevated integrin B3 due to endometrial copy number variation.Reproduction & fertility · 2026Article
- A Systematic Review of the Advances and New Insights into Copy Number Variations in Plant Genomes.Plants (Basel, Switzerland) · 2025Review
- A Systematic Review of SNPs Screening for Platinum-Related Pharmacodynamics and Pharmacokinetics Genes in Non-Small Cell Lung Cancer for Precision Medicine.The application of clinical genetics · 2025Review
- Inverse and ProportionalGenes · 2024Article
- Copy Number Variations and Gene Mutations Identified by Multiplex Ligation-Dependent Probe Amplification in Romanian Chronic Lymphocytic Leukemia Patients.Journal of personalized medicine · 2023Article
- Copy Number Variation Regions Differing in Segregation Patterns Span Different Sets of Genes.Animals : an open access journal from MDPI · 2023Article
- Psychopathology in mothers of children with pathogenic Copy Number Variants.Journal of medical genetics · 2023Article
- Copy Number Variation and Osteoporosis.Current osteoporosis reports · 2023Review
- Genomic imbalance modulates transposable element expression in maize.Plant communications · 2023Article
- Frequent copy number variants in a cohort of Mexican-Mestizo individuals.Molecular cytogenetics · 2023Article
- Uncovering structural variants associated with body weight and obesity risk in labrador retrievers: a genome-wide study.Frontiers in genetics · 2023Article
- Identification of copy number variants contributing to hallux valgus.Frontiers in genetics · 2023Article
- PeakCNV: A multi-feature ranking algorithm-based tool for genome-wide copy number variation-association study.Computational and structural biotechnology journal · 2022Article
- Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center.Arquivos brasileiros de cardiologia · 2022Article
- A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data.Cancers · 2021Article
- Genetics of diaphragmatic hernia.European journal of human genetics : EJHG · 2021Review
- Evolution of Multidrug Resistance in Plasmodium falciparum: a Longitudinal Study of Genetic Resistance Markers in the Greater Mekong Subregion.Antimicrobial agents and chemotherapy · 2021Article
43 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
5 authors.
Funding
Abstract
Structural genetic variation, including copy-number variation (CNV), constitutes a substantial fraction of total genetic variability and the importance of structural genetic variants in modulating human disease is increasingly being recognized. Early successes in identifying disease-associated CNVs via a candidate gene approach mandate that future disease association studies need to include structural genetic variation. Such analyses should not rely on previously developed methodologies that were designed to evaluate single nucleotide polymorphisms (SNPs). Instead, development of novel technical, statistical, and epidemiologic methods will be necessary to optimally capture this newly-appreciated form of genetic variation in a meaningful manner.
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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.