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Protein-altering variants at copy number-variable regions influence diverse human phenotypes
Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not been effectively ascertained in most genetic association...
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GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While standardized methods, such as the genome analysis toolkit...
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Analysis of copy number variants detected by sequencing in spontaneous abortion
BackgroundThe incidence of spontaneous abortion (SA), which affects approximately 15–20% of pregnancies, is the most common complication of early...
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Rare copy-number variants as modulators of common disease susceptibility
BackgroundCopy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in...
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Frequent copy number variants in a cohort of Mexican-Mestizo individuals
BackgroundThe human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from...
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Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray
BackgroundNoninvasive prenatal testing (NIPT) allows for screening of fetal aneuploidy and copy number variants (CNVs) from cell-free DNA (cfDNA) in...
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Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia
BackgroundConsidering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes...
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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous....
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CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis
AbstractThis review is devoted to a comprehensive analysis of DNA copy number variations (CNVs) identified in patients with neurodevelopmental...
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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing
IntroductionThe implication of copy number variations in familial heart disease is known, although in-depth knowledge is lacking; hence, more studies...
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Copy Number Variations and Schizophrenia
Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to...
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Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants
Amylase activity and levels in humans are heritable quantitative traits. Although many studies exist on the effects of copy-number variants (CNVs) in...
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SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
Copy number variants (CNVs) represent major etiologic factors in rare genetic diseases. Current clinical CNV interpretation workflows require...
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Screening copy number variations in 35 unsolved inherited retinal disease families
The purpose of this study was to screen Copy Number Variations (CNVs) in 35 unsolved Inherited Retinal Dystrophy (IRD) families. Initially, next...
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Next-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel DNAH5 Copy Number Variations
Primary ciliary dyskinesia (PCD) is a rare disorder characterized by extensive genetic heterogeneity. However, in the genetic pathogenesis of PCD,...
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17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
Copy number variants (CNVs) have been identified as common genomic variants that play a significant role in inter-individual variability. Conversely,...
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A crowdsourcing database for the copy-number variation of the Spanish population
BackgroundDespite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly...
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Experience of copy number variation sequencing applied in spontaneous abortion
PurposeWe evaluated the value of copy number variation sequencing (CNV-seq) and quantitative fluorescence (QF)-PCR for analyzing chromosomal...
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Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience
Background17p13.3 microdeletions or microduplications (collectively known as copy number variants or CNVs) have been described in individuals with...
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DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number
Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by deletion and duplication of a...
