Integration of DNA copy number alterations and transcriptional expression analysis in human gastric cancer. [PDF]
BACKGROUND: Genomic instability with frequent DNA copy number alterations is one of the key hallmarks of carcinogenesis. The chromosomal regions with frequent DNA copy number gain and loss in human gastric cancer are still poorly defined.
Biao Fan +9 more
doaj +8 more sources
Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]
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
Objective: To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations. Materials and methods: Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale.
Honglei Duan +5 more
doaj +2 more sources
Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study [PDF]
Background/Objectives: Triple-negative breast cancer (TNBC) is a highly aggressive subtype with limited therapeutic options, and identifying reliable biomarkers for diagnosis and prognosis is crucial for improving patient outcomes.
Karin Manto +8 more
doaj +2 more sources
Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus [PDF]
Background Recent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes.
Kim Hyung-Lae +6 more
doaj +4 more sources
DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing
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 +10 more
doaj +2 more sources
Background: Detection of tumor-specific alterations in cell-free DNA (cfDNA) has proven valuable as a liquid biopsy for several types of cancer. So far, use of cfDNA remains unexplored for pancreatic neuroendocrine tumor (PNET) patients.Methods: From 10 ...
Gitta Boons +16 more
doaj +2 more sources
Advances of nanopore direct sequencing technology and bioinformatics analysis for cell-free DNA detection and its clinical applications in cancer liquid biopsy [PDF]
Cell-free DNA (cfDNA) containing cancer information has become a key biomarker for cancer liquid biopsy. Current next-generation sequencing (NGS) technology for cfDNA detection often fail to capture multiomics information, such as fragmentomics ...
Jiaxin Tan +10 more
doaj +2 more sources
mtDNA copy number/miR663/AATF axis in invasive ductal carcinoma of the breast [PDF]
Introduction: Mitochondrial DNA (mtDNA) copy number variations have been reported in multiple human cancers. Previous studies indicate that mitochondrial retrograde signaling regulates miR663, which plays a key role in tumorigenesis, including regulating
Farzaneh Dahi +2 more
doaj +2 more sources
DNA copy number variations characterize benign and malignant thyroid tumors.
Liu Y +12 more
europepmc +2 more sources

