Results 1 to 10 of about 3,549,870 (295)
Copy Number Profiling of Brazilian Astrocytomas [PDF]
G3: Genes, Genomes, Genetics, 2016 Copy number alterations (CNA) are one of the driving mechanisms of glioma tumorigenesis, and are currently used as important biomarkers in the routine setting.
Lucas Tadeu Bidinotto +12 more
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ctDNA monitoring using tumor-informed copy number analysis [PDF]
EMBO Molecular MedicineMethods to detect circulating tumor DNA (ctDNA) enable minimally invasive responsive monitoring of cancer dynamics. However, sensitive and cost-effective methods are still lacking.
Ze Zhou +12 more
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Benchmarking scRNA-seq copy number variation callers [PDF]
Nature CommunicationsCopy number variations (CNVs), the gain or loss of genomic regions, are associated with disease, especially cancer. Single cell technologies offer new possibilities to capture within-sample heterogeneity of CNVs and identify subclones relevant for tumor ...
Katharina T. Schmid +6 more
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Signatures of Discriminative Copy Number Aberrations in 31 Cancer Subtypes
Frontiers in Genetics, 2021 Copy number aberrations (CNA) are one of the most important classes of genomic mutations related to oncogenetic effects. In the past three decades, a vast amount of CNA data has been generated by molecular-cytogenetic and genome sequencing based methods.
Bo Gao +3 more
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Genetic association studies of copy-number variation: should assignment of copy number states precede testing? [PDF]
PLoS ONE, 2012 Recently, structural variation in the genome has been implicated in many complex diseases. Using genomewide single nucleotide polymorphism (SNP) arrays, researchers are able to investigate the impact not only of SNP variation, but also of copy-number ...
Patrick Breheny +4 more
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Copy Number Variations and Schizophrenia
Molecular Neurobiology, 2022 Abstract Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to the development of schizophrenia is a subject of extensive research activity, as reliable data regarding its aetiology would enable the improvement of its therapy and the development of new methods ...
Kamila Szecówka +4 more
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ColE1 copy number mutants [PDF]
Journal of Bacteriology, 1982 A deletion mutant of the colicin E1-derived plasmid, pDMS6642, exhibited an approximately fourfold increase in copy number. We subsequently isolated hydroxylamine-induced mutants of that plasmid that had a further increase in copy number. Analysis of them suggests that the increased copy number of pDMS6642 is associated with transcriptional readthrough
L, Schmidt, J, Inselburg
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Functional copy-number alterations in cancer. [PDF]
PLoS ONE, 2008 Understanding the molecular basis of cancer requires characterization of its genetic defects. DNA microarray technologies can provide detailed raw data about chromosomal aberrations in tumor samples.
Barry S Taylor +7 more
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Comparing copy-number profiles under multi-copy amplifications and deletions
BMC Genomics, 2020 Background During cancer progression, malignant cells accumulate somatic mutations that can lead to genetic aberrations. In particular, evolutionary events akin to segmental duplications or deletions can alter the copy-number profile (CNP) of a set of ...
Garance Cordonnier, Manuel Lafond
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Copy number variants in Ebstein anomaly. [PDF]
PLoS ONE, 2017 Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with
Andreas Giannakou +10 more
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