Copy-number variation and association studies of human disease

2007 ◽  
Vol 39 (S7) ◽  
pp. S37-S42 ◽  
Author(s):  
Steven A McCarroll ◽  
David M Altshuler
Keyword(s):  
Copy Number Variation ◽  
Human Disease ◽  
Copy Number ◽  
Association Studies ◽  
Number Variation

Gene copy number variation and common human disease

2010 ◽  
Vol 77 (3) ◽  
pp. 201-213 ◽  
Author(s):  
M Fanciulli ◽  
E Petretto ◽  
TJ Aitman
Keyword(s):  
Copy Number Variation ◽  
Human Disease ◽  
Copy Number ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Gene Copy Number Variation ◽  
Number Variation

scholarly journals Copy number variation in the mouse genome: implications for the mouse as a model organism for human disease

2008 ◽  
Vol 123 (1-4) ◽  
pp. 297-306 ◽  
Author(s):  
G. Cutler ◽  
P.D. Kassner
Keyword(s):  
Copy Number Variation ◽  
Human Disease ◽  
Copy Number ◽  
Mouse Genome ◽  
Model Organism ◽  
Number Variation

COPY NUMBER VARIATION IN METABOLIC SYNDROME

2008 ◽  
Vol 31 (4) ◽  
pp. 15
Author(s):  
M Lanktree ◽  
R A Hegele
Keyword(s):  
Metabolic Syndrome ◽  
Copy Number Variation ◽  
Copy Number ◽  
Late Onset ◽  
Association Studies ◽  
Partial Lipodystrophy ◽  
Increased Risk ◽  
Number Variation ◽  
Familial Partial Lipodystrophy ◽  
Obesity Hypertension

Metabolic syndrome (MetS) is defined by the presence of abdominal obesity, hypertension, dysglycemia, and dyslipidemia. Many mutations have been discovered that cause rare monogenic components of metabolic syndrome, and association studies have linked common variants with increased risk of MetS and its components. Despite successes in identifying genetic contributors to metabolic syndrome, unexplained heritability exists and copy number variation (CNV) could be responsible for a portion of this variation. As observed with single nucleotide changes, it is likely that both rare and common CNVs will contribute to MetS disease susceptibility. Recent efforts to map CNVs in control populations have given insight into their size, frequency and distribution. However, despite being observed in controls, the reported CNVs could still modulate susceptibility for late-onset complex traitsor produce subtle metabolic phenotypes. Here we examine the overlap between CNVs found in control datasets and genes with functional hypotheses or evidence of previous association to MetS. Secondly, we present the results and methodology of a search for a rare CNV in a high-penetrance Mendelian disorder, namely familial partial lipodystrophy. As methods to identify CNVs increase in precision and accuracy, the prospect of identifying their role in both rare Mendelian and common complex diseases is exciting.

Copy number variation based genetic association studies

2011 ◽  
Vol 56 (6) ◽  
pp. 370-382 ◽  
Author(s):  
XueGong ZHANG ◽  
XueYa ZHOU
Keyword(s):  
Copy Number Variation ◽  
Genetic Association ◽  
Copy Number ◽  
Association Studies ◽  
Genetic Association Studies ◽  
Number Variation

scholarly journals Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies

2008 ◽  
Vol 17 (8) ◽  
pp. 1127-1136 ◽  
Author(s):  
Arthur S. Lee ◽  
María Gutiérrez-Arcelus ◽  
George H. Perry ◽  
Eric J. Vallender ◽  
Welkin E. Johnson ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Rhesus Macaque ◽  
Human Disease ◽  
Copy Number ◽  
Macaque Genome ◽  
Number Variation ◽  
Candidate Loci ◽  
Rhesus Macaque Genome

scholarly journals Using Family Data as a Verification Standard to Evaluate Copy Number Variation Calling Strategies for Genetic Association Studies

2012 ◽  
Vol 36 (3) ◽  
pp. 253-262 ◽  
Author(s):  
Xiaojing Zheng ◽  
John R. Shaffer ◽  
Caitlin P. McHugh ◽  
Cathy C. Laurie ◽  
Bjarke Feenstra ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Genetic Association ◽  
Copy Number ◽  
Association Studies ◽  
Genetic Association Studies ◽  
Family Data ◽  
Number Variation ◽  
Copy Number Variation Calling

scholarly journals Genome-wide patterns of copy number variation in the diversified chicken genomes using next-generation sequencing

2014 ◽  
Author(s):  
Guoqiang Yi ◽  
Lujiang Qu ◽  
Jianfeng Liu ◽  
Yiyuan Yan ◽  
Guiyun Xu ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Association Studies ◽  
False Negative ◽  
Gene Copy ◽  
Comparative Genomic ◽  
Mineral Density ◽  
Validation Rate ◽  
Genome Wide ◽  
Number Variation

Copy number variation (CNV) is important and widespread in the genome, and is a major cause of disease and phenotypic diversity. Herein, we perform genome-wide CNV analysis in 12 diversified chicken genomes based on whole genome sequencing. A total of 9,025 CNV regions (CNVRs) covering 100.1 Mb and representing 9.6% of the chicken genome are identified, ranging in size from 1.1 to 268.8 kb with an average of 11.1 kb. Sequencing-based predictions are confirmed at high validation rate by two independent approaches, including array comparative genomic hybridization (aCGH) and quantitative PCR (qPCR). The Pearson?s correlation values between sequencing and aCGH results range from 0.395 to 0.740, and qPCR experiments reveal a positive validation rate of 91.71% and a false negative rate of 22.43%. In total, 2,188 predicted CNVRs (24.2%) span 2,182 RefSeq genes (36.8%) associated with specific biological functions. Besides two previously accepted copy number variable genesEDN3andPRLR, we also find some promising genes with potential in phenotypic variants.FZD6andLIMS1, two genes related to diseases susceptibility and resistance are covered by CNVRs. Highly duplicatedSOCS2may lead to higher bone mineral density. Entire or partial duplication of some genes likePOPDC3andLBFABPmay have great economic importance in poultry breeding. Our results based on extensive genetic diversity provide the first individualized chicken CNV map and genome-wide gene copy number estimates and warrant future CNV association studies for important traits of chickens.

scholarly journals Genetic Association Studies of Copy-Number Variation: Should Assignment of Copy Number States Precede Testing?

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e34262 ◽  
Author(s):  
Patrick Breheny ◽  
Prabhakar Chalise ◽  
Anthony Batzler ◽  
Liewei Wang ◽  
Brooke L. Fridley
Keyword(s):  
Copy Number Variation ◽  
Genetic Association ◽  
Copy Number ◽  
Association Studies ◽  
Genetic Association Studies ◽  
Number Variation

scholarly journals Complex and multi-allelic copy number variation in human disease

2015 ◽  
Vol 14 (5) ◽  
pp. 329-338 ◽  
Author(s):  
Christina L. Usher ◽  
Steven A. McCarroll
Keyword(s):  
Copy Number Variation ◽  
Human Disease ◽  
Copy Number ◽  
Number Variation ◽  
Allelic Copy Number
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