Copy Number Variation in Human Health, Disease, and Evolution

By Feng Zhang, W. Gu, Matthew E. Hurles, J. R. Lupski. Annual review of genomics and human genetics (Print), 2009

1,196 citations recorded by the source corpus.

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified with various genome analysis platforms, including array comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) genotyping platforms, and next-generation sequencing. CNV formation occurs by both recombination-based and replication-based mechanisms and de novo locus-specific mutation rates appear much higher for CNVs than for SNPs. By various molecular mechanisms, including gene dosage, gene disruption, gene fusion, position effects, etc., CNVs can cause Mendelian or sporadic traits, or be associated with complex diseases. However, CNV can also represent benign polymorphic variants. CNVs, especially gene duplication and exon shuffling, can be a predominant mechanism driving gene and genome evolution.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/aa167ad77d296c69f556385370dcccd7e8779f3b

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In Genetics

Citations in the corpus

Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls (2010, positive): “CNVs at which distinct copy number classes cannot be distinguished might result because: (1) although polymorphic, the signal to noise ratio at that CNV does not allow reliable identification of distinct copy-number classes; (2) the copy-number variant has an extremely low population frequency; or (”
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity (2015, background): “Individual CNVs distorting single or contiguous gene dosage have been linked to human diseases [20].”
A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay (2010, methodology): “Copy-number variation data on controls (n=8,540) consisted of six sets: (1) 671 individuals of European descent with no family history or first-degree relative with amyotrophic lateral sclerosis, ataxia, autism, brain aneurysm, dystonia, Parkinson's disease, or schizophrenia; (2) 936 middle-aged (40”
10 Years of GWAS Discovery: Biology, Function, and Translation. (2017, background): “Our focus is on associations between complex traits and SNPs, but we note that there have been many reported associations between traits and copy-number variants (CNVs) and that there are known mechanisms by which CNVs can be associated with disease.(2) Results from other genome-wide surveys, includ”
Radiogenomics and Radiotherapy Response Modeling (2017, background): “CNVs are less numerous than SNPs but they affect up to 10% of the genome, disrupting coding sequences or interrupting long range gene regulation, therefore, accounting for more differences among individuals (Zhang et al., 2009).”
DELLY: structural variant discovery by integrated paired-end and split-read analysis (2012, background): “Of particular interest are integrated methods that accurately identify simple and complex rearrangements in heterogeneous sequencing datasets at single-nucleotide resolution, as an optimal basis for investigating the formation mechanisms and functional consequences of SVs. Results: We have…”