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Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
BackgroundDiagnosis of rare genetic diseases can be a long, expensive and complex process, involving an array of tests in the hope of obtaining an...
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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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Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Partial duplications of genes can be challenging to detect and interpret and, therefore, likely represent an underreported cause of human disease....
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Copy number variant analysis for syndromic congenital heart disease in the Chinese population
BackgroundSyndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an...
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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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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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Somatic copy number variant load in neurons of healthy controls and Alzheimer’s disease patients
The possible role of somatic copy number variations (CNVs) in Alzheimer’s disease (AD) aetiology has been controversial. Although cytogenetic studies...
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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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Population history modulates the fitness effects of Copy Number Variation in the Roma
We provide the first whole genome Copy Number Variant (CNV) study addressing Roma, along with reference populations from South Asia, the Middle East...
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Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia,...
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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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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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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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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
BackgroundThe multiple de novo copy number variant (M dn CNV) phenotype is described by having four or more constitutional de novo CNVs ( dn CNVs)...
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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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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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Copy number signatures and CCNE1 amplification reveal the involvement of replication stress in high-grade endometrial tumors oncogenesis
PurposeManaging high-grade endometrial cancer in Martinique poses significant challenges. The diversity of copy number alterations in high-grade...
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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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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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Genome-wide quantification of copy-number aberration impact on gene expression in ovarian high-grade serous carcinoma
Copy-number alterations (CNAs) are a hallmark of cancer and can regulate cancer cell states via altered gene expression values. Herein, we have...
