Results 11 to 20 of about 125,484 (288)

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, Harutyunyan T, Aroutiounian R, Liehr T.   +3 more
europepmc   +6 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   +6 more sources

Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]

BMC Bioinformatics, 2012
Background Variations in DNA copy number carry information on the modalities of genome evolution and mis-regulation of DNA replication in cancer cells. Their study can help localize tumor suppressor genes, distinguish different populations of cancerous ...
Zhang Zhongyang, Lange Kenneth, Sabatti Chiara   +2 more
doaj   +3 more sources

Detection of erbB2 copy number variations in plasma of patients with esophageal carcinoma [PDF]

BMC Cancer, 2011
Background Mortality is high in patients with esophageal carcinoma as tumors are rarely detected before the disease has progressed to an advanced stage.
Iolascon Achille, Troncone Giancarlo, Gemei Marica, Montanaro Donatella, Capasso Mario, De Antonellis Pasqualino, Vecchione Loredana, Petrosino Giuseppe, Andolfo Immacolata, Orditura Michele, Ciardiello Fortunato, De Vita Fernando, Zollo Massimo   +12 more
doaj   +3 more sources

DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing [PDF]

BMC Genomics, 2010
Background DNA copy number variations occur within populations and aberrations can cause disease. We sought to develop an improved lab-automatable, cost-efficient, accurate platform to profile DNA copy number.
Jackson Stuart, Misura Kira, Chen Ronghua, Xie Tao, Bouzek Heather, Biery Matthew, Castle John C, Armour Christopher D, Johnson Jason M, Rohl Carol A, Raymond Christopher K   +10 more
doaj   +2 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, Kathleen Rooney, Tessa MA Trooster, Marcel MAM Mannens, Bekim Sadikovic, Peter Henneman   +5 more
openaire   +5 more sources

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, Malgorzata Marszalek-Zenczak, Pawel Wojciechowski, Anna Samelak-Czajka, Magdalena Luczak, Piotr Kozlowski, Wojciech M. Karlowski, Marek Figlerowicz   +7 more
openaire   +2 more sources

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, Koltšina M, Raid R, Kurg A, Tõnisson N, Salumets A.   +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, Weichen Zhou, Ling Zhang, Feng Zhang   +3 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, Kazushi Anzawa, Takashi Mochizuki   +2 more
openaire   +2 more sources