ReviewBriefings in functional genomics2015
Complex and multi-allelic copy number variation in human disease.
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 27 papers.
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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.
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Who cites it
27 citing papers in PubMed.
- Forging the path to precision medicine in Qatar: a public health perspective on pharmacogenomics initiatives.Frontiers in public health · 2024Review
- Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.Frontiers in genetics · 2024Review
- Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis.NPJ genomic medicine · 2022Article
- CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.Cell genomics · 2022Article
- Effect of AMY1 copy number variation and various doses of starch intake on glucose homeostasis: data from a cross-sectional observational study and a crossover meal study.Genes & nutrition · 2021Article
- LongAGE: defining breakpoints of genomic structural variants through optimal and memory efficient alignments of long reads.Bioinformatics (Oxford, England) · 2021Article
- A Novel Computational Framework to Predict Disease-Related Copy Number Variations by Integrating Multiple Data Sources.Frontiers in genetics · 2021Article
- Fuzzy methods for the detection of copy number variations in comparative genomic hybridization arrays.Saudi journal of biological sciences · 2020Article
- Copy number variation of IL17RA gene and its association with the ankylosing spondylitis risk in Iranian patients: a case-control study.BMC medical genetics · 2020Article
- Article
- Transposable elements contribute to the genomic response to insecticides inPhilosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Article
- Article
- A Shallow Convolutional Learning Network for Classification of Cancers Based on Copy Number Variations.Sensors (Basel, Switzerland) · 2019Article
- A multi-omics data simulator for complex disease studies and its application to evaluate multi-omics data analysis methods for disease classification.GigaScience · 2019Article
- Article
- Detection and visualization of complex structural variants from long reads.BMC bioinformatics · 2018Article
- The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels.American journal of human genetics · 2018Article
- Copy Number Variations in Adult-onset Neuropsychiatric Diseases.Current genomics · 2018Review
- Sulfotransferase 1A3/4 copy number variation is associated with neurodegenerative disease.The pharmacogenomics journal · 2018Article
- Copy Number Variation in Fungi and Its Implications for Wine Yeast Genetic Diversity and Adaptation.Frontiers in microbiology · 2018Review
Corrections and comments
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Authors and funding
2 authors.
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Abstract
Hundreds of copy number variants are complex and multi-allelic, in that they have many structural alleles and have rearranged multiple times in the ancestors who contributed chromosomes to current humans. Not only are the relationships of these multi-allelic CNVs (mCNVs) to phenotypes generally unknown, but many mCNVs have not yet been described at the basic levels-alleles, allele frequencies, structural features-that support genetic investigation. To date, most reported disease associations to these variants have been ascertained through candidate gene studies. However, only a few associations have reached the level of acceptance defined by durable replications in many cohorts. This likely stems from longstanding challenges in making precise molecular measurements of the alleles individuals have at these loci. However, approaches for mCNV analysis are improving quickly, and some of the unique characteristics of mCNVs may assist future association studies. Their various structural alleles are likely to have different magnitudes of effect, creating a natural allelic series of growing phenotypic impact and giving investigators a set of natural predictions and testable hypotheses about the extent to which each allele of an mCNV predisposes to a phenotype. Also, mCNVs' low-to-modest correlation to individual single-nucleotide polymorphisms (SNPs) may make it easier to distinguish between mCNVs and nearby SNPs as the drivers of an association signal, and perhaps, make it possible to preliminarily screen candidate loci, or the entire genome, for the many mCNV-disease relationships that remain to be discovered.
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