Cell-free DNA copy number variations predict efficacy of immune checkpoint inhibitor-based therapy in hepatobiliary cancers [PDF]
Journal for ImmunoTherapy of Cancer, 2021 Background This study was designed to screen potential biomarkers in plasma cell-free DNA (cfDNA) for predicting the clinical outcome of immune checkpoint inhibitor (ICI)-based therapy in advanced hepatobiliary cancers.Methods Three cohorts including 187
Ying Hu +19 more
doaj +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
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
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
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 +2 more
doaj +6 more sources
Mitochondrial DNA Copy Number Variation Across Human Cancers [PDF]
, 2015 AbstractIn cancer, mitochondrial dysfunction, through mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), contributes to the malignant transformation and progress of tumors. Here, we report the first large-scale survey of mtDNA copy number variation across 21 distinct solid tumor types, examining over 13,000 tissue samples ...
Ed Reznik +5 more
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Measuring DNA Copy Number Variation Using High-Density Methylation Microarrays [PDF]
Journal of Computational Biology, 2019 Genetic and epigenetic changes drive carcinogenesis, and their integrated analysis provides insights into mechanisms of cancer development. Computational methods have been developed to measure copy number variation (CNV) from methylation array data, including ChAMP-CNV, CN450K, and, introduced here, Epicopy. Using paired single nucleotide polymorphism (
Soonweng Cho +4 more
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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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DNA copy number variations in children with vesicoureteral reflux and urinary tract infections. [PDF]
PLoS ONE, 2019 Vesicoureteral reflux (VUR) is a complex, heritable disorder. Genome-wide linkage analyses of families affected by VUR have revealed multiple genomic loci linked to VUR.
Dong Liang +9 more
doaj +2 more sources
Telomere Length and Mitochondrial DNA Copy Number Variations in Patients with Obesity: Effect of Diet-Induced Weight Loss-A Pilot Study. [PDF]
Nutrients, 2022 Cancello R +12 more
europepmc +3 more sources