Results 21 to 30 of about 353,576 (232)
Briefings Bioinform., 2021 Chromosome copy number variations (CNVs) are a near-universal feature of cancer; however, their individual effects on cellular function are often incompletely understood.
A. Mahdipour-Shirayeh +3 more
semanticscholar +1 more source
Cell-free DNA test for pathogenic copy number variations: A retrospective study
Taiwanese Journal of Obstetrics & Gynecology, 2021 Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities.
Hong-Lei Duan +7 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Several copy number variations (CNVs) are associated with increased risk for neurodevelopmental and psychiatric disorders. The CNV 15q11.2 (BP1‐BP2) deletion has been associated with learning difficulties, attention deficit hyperactivity ...
Lina Jonsson +6 more
doaj +1 more source
European Journal of Medical Research, 2021 Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and
Taccyanna M. Ali +9 more
doaj +1 more source
DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation. [PDF]
, 2017 Potential bias introduced during DNA isolation is inadequately explored, although it could have significant impact on downstream analysis. To investigate this in human brain, we isolated DNA from cerebellum and frontal cortex using spin columns under ...
A Bendich +49 more
core +12 more sources
Genome Architecture and Its Roles in Human Copy Number Variation [PDF]
Genomics & Informatics, 2014 Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases.
Lu Chen +3 more
doaj +1 more source
AthCNV: A Map of DNA Copy Number Variations in the Arabidopsis Genome[OPEN]
The Plant Cell, 2020 A catalog of large copy number variations (CNVs), CNV-overlapping genes, and their genotypes in 1060 Arabidopsis accessions will stimulate studies on the genetic basis of phenotypic variation.
A. Zmienko +7 more
semanticscholar +1 more source
THE SCREENING AND RANKING ALGORITHM TO DETECT DNA COPY NUMBER VARIATIONS. [PDF]
Annals of Applied Statistics, 2012 DNA Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation that likely influences phenotypic differences.
Yue Niu, Heping Zhang
semanticscholar +1 more source
Acta Dermato-Venereologica, 2021 Biological drugs targeting tumour necrosis factor are effective for psoriasis. However, 30–50% of patients do not respond to these drugs and may even develop paradoxical psoriasiform reactions.
Ancor Sanz-Garcia +11 more
doaj +1 more source
Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data [PDF]
Genomics & Informatics, 2012 In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery.
Soon-Young Kim +2 more
doaj +1 more source