copy number variants
Exploring correlations among copy number variants
... in Copy Number Variants which are statistically significant, and whose statistical significance varies from population to ...analyzing Copy Number Variants in the same population ...
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Schizophrenia copy number variants and associative learning
... genetic variants contributing to risk for schizophrenia, which include multiple common alleles of small effect and a significant component of rarer but more penetrant ...chromosomal copy number ...
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Bias of selection on human copy-number variants
... large-scale copy-number variation is an important contributor to conspecific genomic diversity, whether these variants frequently contribute to human phenotype differences remains ...then ...
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CNVxplorer: A web tool for the interpretation of copy number variants
... of Copy Number Variants (CNVs) has been gradually introduced into routine diagnostics over the last 15 years and has been described as an important source of pathogenic variants in rare ...
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Role of Copy Number Variants in Structural Birth Defects
... termed copy number variants (CNVs)(See Sup- plemental ...variable copy numbers in comparison with the reference ge- ...additional copy number vari- able regions are ...
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Impact of constitutional copy number variants on biological pathway evolution
... Abstract Background: Inherited Copy Number Variants (CNVs) can modulate the expression levels of individual genes. However, little is known about how CNVs alter biological pathways and how this ...
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Haplotype Phasing and Inheritance of Copy Number Variants in Nuclear Families
... DNA copy number variants (CNVs) that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease suscepti- ...A ...
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Rare Copy Number Variants Are a Common Cause of Short Stature
... and copy number variants (CNVs) contribute to height variation under a polygenic model, although explaining only a small fraction of overall genetic variability in the general ...in number, ...
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Identification of copy number variants from exome sequence data
... Abstract Background: With advances in next generation sequencing technologies and genomic capture techniques, exome sequencing has become a cost-effective approach for mutation detection in genetic diseases. However, ...
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The clinical significance of small copy number variants in neurodevelopmental disorders
... large copy number variants (CNVs) in neurodevelopmental disorders (NDDs), the individual significance of genome-wide rare CNVs <500 kb has not been well elucidated in a clinical ...
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Copy-Number Variants in Patients with a Strong Family History of Pancreatic Cancer
... Although most familial syndromes appear to be caused by small intragenic mutations in cancer-associated genes, some familial syndromes are caused by larger germ-line deletions or duplications of these same genes. 40-50 ...
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The Neutral Coalescent Process for Recent Gene Duplications and Copy-Number Variants
... When a duplicate gene has fixed recently in the population, diversity in the new gene is expected to be significantly reduced, and an excess of rare alleles is also expected. These expectations complicate the inference ...
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Copy number variants are a common cause of non-syndromic hearing loss
... We include all NSHL genes known at the time each re- spective version of OtoSCOPE was made (v4 designed May 2011, and v5 designed November 2012) as well as genes that cause syndromic forms of deafness that mimic NSHL at ...
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Association Testing Of Copy Number Variants in Schizophrenia and Autism Spectrum Disorders
... 21. Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De- Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering ...
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Copy number variants account for a tiny fraction of undiagnosed myopathic patients
... Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients Teresa Giugliano 1,2 , Marco Savarese 1,3 , Arcomaria Garofalo 1,2 , Esther Picillo 4 , Chiara Fiorillo 5 , Adele ...
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Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
... inferring copy-number variants (CNVs) from next-generation sequence data, there remains a need for a system that is computationally efficient but that retains good sensitivity and specificity across ...
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Influence of aflatoxin B1 on copy number variants in human leukocytes in vitro
... 18. Arlt MF, Rajendran S, Birkeland SR, Wilson TE, Glover TW. Copy number variants are produced in response to low-dose ionizing radiation in cultured cells. Environ Mol Mutagen. 2014;55:103 – 13. ...
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Association testing of copy number variants in schizophrenia and autism spectrum disorders
... 21. Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De- Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering ...
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Novel copy number variants in children with autism and additional developmental anomalies
... for copy number variation exists for any given region of the genome, we relied on information obtained from our arrays as well as our gender prediction within the qPCR experiment to support the use of GAPDH ...
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Major influence of repetitive elements on disease-associated copy number variants (CNVs)
... Abstract Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the ...
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