Articles tagged with Copy Number Variations
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A recent study published in Nature Genetics sheds light on the genetic changes that occur when cancer spreads from a primary tumor to new sites throughout the body. The research team found that whole-genome duplication is the most common genetic event during metastasis, occurring in nearly one-third of patients.
Researchers have developed an innovative optical genome mapping technique that can identify structural variants and copy number variations across the entire genome in a single test. The method has been shown to reduce material requirements and improve prognostic stratification for patients with multiple myeloma.
BGI Genomics' Indonesian joint venture signed a partnership agreement to advance prenatal genetic screening technology in Indonesia. The collaboration focuses on extended Non-Invasive Prenatal Test (NIPT-Pro) and Copy Number Variation Sequencing (CNVseq) for early detection of fetal genetic disorders.
A recent study uses CNV-seq and WES to detect congenital heart disease, identifying genes contributing to CHD and increasing diagnostic yield. The combination of these technologies boosts detection rates for CHDs, improving prenatal management.
Scientists at IRB Barcelona have discovered a link between gene copy number alterations and mutations in tumour suppressor genes, which could lead to new cancer treatments. The study found that both increases and decreases in the number of gene copies can drive cancer evolution.
Researchers developed a new NIPT-based method that reveals 33 pathogenic copy number variations (CNVs) in the Duchenne muscular dystrophy (DMD) gene. This study provides valuable insights into the frequency and spectrum of maternal CNV carriers in the Chinese population.
New study reveals two novel mechanisms that contribute to antibiotic resistance in bacteria, accelerating the growth of resistant bacteria during treatment. These mechanisms can occur independently and are linked to increased gene copy number variation and heteroresistance, complicating treatment for patients.
Studies at single-cell resolution reveal significant tumor cell heterogeneity and an immune-evasive environment that contributes to treatment resistance in T follicular helper cell lymphomas. A novel marker, PLS3, is also identified as a key player in this process.
A new study validates Low-Pass Genome Sequencing (LP GS) as a robust and cost-effective alternative to Chromosomal Microarray Analysis (CMA) for prenatal diagnosis. LP GS detects six additional Copy Number Variations (CNVs) in cases with negative CMA results, highlighting the importance of sequencing depth in its detection sensitivity.
Researchers found that pregnant mice experiencing copy number variation (CNV) showed similarities to aging, with biomarkers and genetic effects appearing during pregnancy and reversing after delivery. This study aims to revolutionize aging treatment by investigating the mechanisms behind post-labor rejuvenation.
The study reveals extensive genome size variation among closely related algal strains, with a more than twofold range of approximately 450-1,100 megabases. Genome-wide copy number variation, rather than duplication or proliferation, drives this dynamics, suggesting rapid changes in genome size through frequent duplications and deletions.
Research at Kobe University reveals that endogenous retrovirus activation increases a fetus's susceptibility to autism, leading to differences in brain structure and behavior. The study identifies BTBR/R mice as a more accurate model of autism, exhibiting autistic-like behaviors without reduced learning ability.
Research on Fanconi anemia reveals its link to aggressive head-and-neck tumors due to gene-copy chaos, increasing the need for new treatments. The study also highlights a connection between smoking and drinking and elevated cancer risk.
A new study by Yale researchers found that girls with autism tend to develop the condition in a different region of the brain than boys, with a larger number of genetic mutations. The findings suggest that girls may have a natural protective effect against developing autism.
A study analyzing gene copy numbers in polar bears and brown bears reveals nearly 200 genes with significant variations, including those involved in olfactory receptors, salivary amylase, and fatty acid metabolism. These differences reflect dietary adaptations between the two species.
A new analysis shows that genetic variation and elevated ozone exposure increase the risk of developing autism, with an added effect when combined. The study found that copy-number variation and particulate matter in the environment had significant individual impacts on autism risk.
A study published in JAMA Network examines the association between genetic variants and cognitive impairment, revealing that intermediate-size copy number variations may negatively affect educational attainment. The research suggests a potential link between these genetic variants and intellectual disability.
Researchers used next-generation sequencing and Bio-Rad's Droplet Digital PCR technology to accurately count diverse copy number states of multiallelic copy number variations (mCNVs) in humans. The study found that mCNVs are responsible for nearly 90% of observed differences in gene copy number, contributing substantially to gene expre...
Two assays, GCR and RQPS, are used to investigate the genetic basis of cancer by measuring chromosomal rearrangements and gene copy numbers. These methods provide insight into pathways that suppress genomic instability in yeast and humans.
Scientists identify a DNA template switching mechanism that can result in rearrangements of genes and exons, leading to copy number variation. This process, called fork stalling and template switching, occurs during cell division and can cause significant changes to the genome.
Researchers mapped copy number variations (CNVs) in African-American and white genomes, finding two duplications with differing frequencies between the groups. The study provides insights into CNV's role in disease and potential neurological disorders.
Researchers at the University of Alberta have discovered how copy number variations contribute to pediatric glaucoma, a disease that can lead to blindness. The study's findings may help improve detection and treatment of childhood glaucoma, paving the way for earlier intervention and better outcomes.
The journal features two new methods: one for detecting copy number variation in genomes using PennCNV software, and another for studying ion differences across membranes in plant cells using patch clamping. These techniques provide a more comprehensive understanding of genome variation and cellular responses.
Researchers at Baylor College of Medicine identified a new mechanism, called Fork Stalling and Template Switching, which causes DNA copy number variation. This process stalls when there is a problem with the DNA, switching to a different template before returning to the original area.
Researchers have identified numerous variations in gene copy number that may contribute to cancer risk and other complex diseases. The study used a new technique to analyze gene copy number in mouse strains, revealing potential implications for human health and illness.