Results 11 to 20 of about 106,656 (293)
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 +4 more sources
Statistical issues in the analysis of DNA Copy Number Variations [PDF]
International Journal of Computational Biology and Drug Design, 2008 Approaches to assess copy number variation have advanced rapidly and are being incorporated into genetic studies. While the technology exists for CNV genotyping, a further understanding and discussion of how to use the CNV data for association analyses is warranted. We present the options available for processing and analysing CNV data.
Nathan E. Wineinger +5 more
openalex +4 more sources
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 +4 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 +5 more sources
A high resolution map of segmental DNA copy number variation in the mouse genome [PDF]
PLoS Genetics, 2005 Submicroscopic (less than 2 Mb) segmental DNA copy number changes are a recently recognized source of genetic variability between individuals. The biological consequences of copy number variants (CNVs) are largely undefined. In some cases, CNVs that cause gene dosage effects have been implicated in phenotypic variation.
Timothy A. Graubert +10 more
openalex +7 more sources
DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma [PDF]
Blood Cancer Journal, 2020 AbstractDespite having common overlapping immunophenotypic and morphological features, T-cell lymphoblastic leukemia (T-ALL) and lymphoma (T-LBL) have distinct clinical manifestations, which may represent separate diseases. We investigated and compared the epigenetic and genetic landscape of adult and pediatric T-ALL (n = 77) and T-LBL (n = 15) patient
Z. Haider +9 more
openalex +9 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 +5 more
europepmc +5 more sources
The Role of DNA Copy Number Variation in Schizophrenia [PDF]
Biological Psychiatry, 2009 Schizophrenia is a major psychiatric disease with strong evidence of genetic risk factors. Recent studies based on genome-wide study of copy number variations (CNVs) have detected novel recurrent submicroscopic copy number changes, including recurrent deletions at 1q21.11, 15q11.3, 15q13.3, and the recurrent CNV at the 2p16.3 neurexin 1 locus.
Gloria W.C. Tam +3 more
openalex +3 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
openaire +3 more sources
Mitochondrial DNA copy number variation across human cancers [PDF]
eLife, 2016 Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project. We observe a tendency for some cancers, especially of the bladder, breast, and kidney, to be depleted of mtDNA, relative to matched
Reznik, Ed +10 more
openaire +6 more sources