MACAT--microarray chromosome analysis tool [PDF]
By linking differential gene expression to the chromosomal localization of genes, one can investigate microarray data for characteristic patterns of expression phenomena involving sizeable parts of specific chromosomes. We have implemented a statistical approach for identifying significantly differentially expressed chromosome regions.
Joern Toedling +4 more
openaire +7 more sources
Iterative Group Analysis (iGA): A simple tool to enhance sensitivity and facilitate interpretation of microarray experiments [PDF]
BACKGROUND: The biological interpretation of even a simple microarray experiment can be a challenging and highly complex task. Here we present a new method (Iterative Group Analysis) to facilitate, improve, and accelerate this process.
Amtmann, A., Herzyk, P., Breitling, R.
core +9 more sources
Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience. [PDF]
Karyotyping has been the gold standard for prenatal chromosome analysis. The resolution should be higher by chromosome microarray analysis (CMA). The challenge lies in recognizing benign and pathogenic or clinically significant copy number variations (pCNV) and variations of unknown significance (VOUS).
Bajaj Lall M +9 more
europepmc +3 more sources
Prenatal diagnosis by chromosomal microarray analysis [PDF]
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements.
Brynn, Levy, Ronald, Wapner
openaire +2 more sources
Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis [PDF]
AbstractTo investigate the incidence and clinical significance of chromosomal mosaicism (CM) in prenatal diagnosis by G‐banding karyotyping and chromosomal microarray analysis (CMA). This is a single‐centre retrospective study of invasive prenatal diagnosis for CM.
Yi Zhang, Mei Zhong, Dezhong Zheng
openaire +2 more sources
Microarray image processing: A novel neural network framework [PDF]
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Due to the vast success of bioengineering techniques, a series of large-scale analysis tools has been developed to discover the functional organization of ...
Zineddin, Bachar
core +7 more sources
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate
Background Double aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an acrocentric chromosome. Double autosomal trisomies are rare with only five cases reported.
Christina Mendiola +4 more
doaj +1 more source
Application of chromosomal microarray analysis in products of miscarriage [PDF]
Chromosomal abnormality is one of the major cause of spontaneous abortion. Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and somewhat of low cost-effectiveness. As chromosomal microarray analysis has been recommended to be applied on miscarriage products, we managed a ...
Xiangyu Zhu +8 more
openaire +3 more sources
Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly [PDF]
AbstractVentriculomegaly is considered to be linked to abnormal neurodevelopment outcome. The aim of this retrospective study was to investigate the current applications of chromosomal microarray analysis (CMA) in foetuses with ventriculomegaly. A total of 548 foetuses with ventriculomegaly detected by prenatal ultrasound underwent single nucleotide ...
Wang, Jiamin +8 more
openaire +2 more sources
Background Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part of a chromosome may be indicative of uniparental disomy (UPD) and may require additional testing when such chromosomes or chromosome regions are known to ...
Veronica Ortega +9 more
doaj +1 more source

