OBJECTIVE: Epilepsy is a chronic brain disease and is estimated to affect more than 50 million people worldwide. Epilepsy is a polygenic and multifactorial disease.Genetic causes play a major role in 40 & ndash;60 % of all epilepsies. Copy number variations(CNVs) have been reported in ...
Objective: To analyze the clinical value of non-invasive prenatal testing (NIPT) in detecting chromosomal copy number variations (CNVs) and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations. Methods: 3551 naturally conceived singleton pregn...
Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and/or autism spectrum disorder (ASD), which affect around 3–4% of the world’s population. Modern platforms ...
This group was representative of tumors with large regions of CNA or whole chromosomal arm copy variations and contrasted in terms of prognosis with tumors with high-nbBP which were of bad prognosis. These results were reminiscent of observations by Janoueix-Lerosey et al., [23], who showed ...
The comparison between the CMA and NIPT-PLUS techniques shows that NIPT-PLUS has high sensitivity for detecting chromosomal aneuploidy and chromosomal copy number variations (CNVs) with fragments > 5 M. However, the sensitivity of CNV for fragments < 5 M is low, and the missed detection ra...
Copy number variationsTechnologies for detecting structural variation (SV) have advanced with the advent of long-read sequencing, which enables the validation of SV at a nucleotide level. Optical genome mapping (OGM), a technology based on physical mapping, can also provide comprehensive SVs analysis...
Chromosomal instability in exfoliated urothelial cells has been associated with the development of bladder cancer. Here, we analyzed the accumulation of copy number variations (CNVs) using fluorescence in situ hybridization in cancer cases and explored f
When we receive your patient’s sample, it is analyzed against a control to determine differences in copy number variations (deletions or duplications). The location and type of change will often determine the cause of your patient’s health condition. ...
[Citation2]. As witnessed at the turn of the twenty first century, the advances in molecular biology methods have revealed that pregnancy loss can be due to numerical chromosomal aberrations and copy number variations (CNVs) within the embryonic genetic material [Citation3]. Upon examination of ...
The advent of cytogenomic microarray analysis has revealed a high frequency of submicroscopic deletions and duplications and other copy number variations, including both apparently benign and pathological changes [15]. Multiple microdeletion and microduplication disorders have been defined in recent years, ...