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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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Acquired copy number variation in prostate tumours: a review of common somatic copy number alterations, how they are formed and their clinical utility
Prostate cancer is one of the most commonly diagnosed cancers in men and unfortunately, disease will progress in up to a third of patients despite...
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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 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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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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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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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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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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BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer
BackgroundWhile the role of BRCA1/2 genes in familial breast and ovarian cancer is well established, their implication in the sporadic form of both...
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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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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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Pleiotropy of Copy Number Variation in Human Genome
AbstractA brief history of the development of ideas about pleiotropy, its types, and the overall prevalence of pleiotropic loci in the human genome,...
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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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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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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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Combining callers improves the detection of copy number variants from whole-genome sequencing
Copy Number Variants (CNVs) are deletions, duplications or insertions larger than 50 base pairs. They account for a large percentage of the normal...
