Results 11 to 20 of about 122,389 (248)
DNA Copy Number Variations as Markers of Mutagenic Impact. [PDF]
Int J Mol Sci, 2019 DNA copy number variation (CNV) occurs due to deletion or duplication of DNA segments resulting in a different number of copies of a specific DNA-stretch on homologous chromosomes. Implications of CNVs in evolution and development of different diseases have been demonstrated although contribution of environmental factors, such as mutagens, in the ...
Hovhannisyan G +3 more
europepmc +3 more sources
Perspective: DNA Copy Number Variations in Cardiovascular Diseases. [PDF]
Epigenet Insights, 2018 Human genome contains many variations, often called mutations, which are difficult to detect and have remained a challenge for years. A substantial part of the genome encompasses repeats and when such repeats are in the coding region they may lead to change in the gene expression profile followed by pathological conditions.
Vijay A, Garg I, Ashraf MZ.
europepmc +4 more sources
DNA methylation episignatures: insight into copy number variation
Epigenomics, 2022 In this review we discuss epigenetic disorders that result from aberrations in genes linked to epigenetic regulation. We describe current testing methods for the detection of copy number variants (CNVs) in Mendelian disorders, dosage sensitivity, reciprocal phenotypes and the challenges of test selection and overlapping clinical features in genetic ...
Liselot van der Laan +5 more
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AthCNV: A Map of DNA Copy Number Variations in the Arabidopsis Genome [PDF]
The Plant Cell, 2020 Abstract Copy number variations (CNVs) greatly contribute to intraspecies genetic polymorphism and phenotypic diversity. Recent analyses of sequencing data for >1000 Arabidopsis (Arabidopsis thaliana) accessions focused on small variations and did not include CNVs.
Agnieszka Zmienko +7 more
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Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. [PDF]
BMC Genomics, 2015 Somatic mosaicism denotes the presence of genetically distinct populations of somatic cells in one individual who has developed from a single fertilised oocyte. Mosaicism may result from a mutation that occurs during postzygotic development and is propagated to only a subset of the adult cells. Our aim was to investigate both somatic mosaicism for copy-
Žilina O +5 more
europepmc +4 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
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
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Influence of environmental factors and genetic variation on mitochondrial DNA copy number
Journal of Animal Science, 2022 Abstract Mitochondrial DNA copy number (mtDNA CN) has been shown to be highly heritable and associated with traits of interest in humans. However, studies are lacking in the literature for livestock species such as beef cattle. In this study, 2,371 individuals from a crossbred beef population comprising the Germplasm Evaluation program ...
Leticia P Sanglard +3 more
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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
Variations in ribosomal DNA copy numbers in a genome of Trichophyton interdigitale [PDF]
Mycoses, 2020 SummaryBackgroundRibosomal DNA (rDNA) reportedly has multiple copies in the fungal genome. The internal transcribed spacer (ITS) region in rDNA is useful for investigating relationships between close taxonomic relatives. Thus, ITS has been widely used as a target gene in medical mycology for the detection of pathogenic fungi and identification of ...
Tomoyuki Iwanaga +2 more
openaire +2 more sources