DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders [PDF]
Italian Journal of PediatricsBackground This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.
Dandan Wu +9 more
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DNA copy number variations characterize benign and malignant thyroid tumors. [PDF]
J Clin Endocrinol Metab, 2013 Fine-needle aspiration (FNA) is the best diagnostic tool for preoperative evaluation of thyroid nodules but is often inconclusive as a guide for surgical management.Our hypothesis was that thyroid tumor subtypes may show characteristic DNA copy number variation (CNV) patterns, which may further improve the preoperative classification.Our study cohorts ...
Liu Y +12 more
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Sequential Model Selection-Based Segmentation to Detect DNA Copy Number Variation [PDF]
Biometrics, 2016 Summary Array-based CGH experiments are designed to detect genomic aberrations or regions of DNA copy-number variation that are associated with an outcome, typically a state of disease. Most of the existing statistical methods target on detecting DNA copy number variations in a single sample or array.
Jianhua Hu, Li‐wen Zhang, Huixia Wang
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Acta Dermato-Venereologica, 2021 Biological drugs targeting tumour necrosis factor are effective for psoriasis. However, 30–50% of patients do not respond to these drugs and may even develop paradoxical psoriasiform reactions.
Ancor Sanz-Garcia +11 more
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Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study [PDF]
DiseasesBackground/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
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Large scale variation in DNA copy number in chicken breeds [PDF]
BMC Genomics, 2013 Detecting genetic variation is a critical step in elucidating the molecular mechanisms underlying phenotypic diversity. Until recently, such detection has mostly focused on single nucleotide polymorphisms (SNPs) because of the ease in screening complete genomes.
R.P.M.A. Crooijmans +7 more
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Cell-free DNA copy number variations in plasma from colorectal cancer patients. [PDF]
Mol Oncol, 2017 To evaluate the clinical utility of cell‐free DNA (cfDNA), we performed whole‐genome sequencing to systematically examine plasma cfDNA copy number variations (CNVs) in a cohort of patients with colorectal cancer (CRC, n = 80), polyps (n = 20), and healthy controls (n = 35).
Li J +8 more
europepmc +4 more sources
CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing [PDF]
Genome Biology, 2019 AbstractHigh-throughput DNA sequencing enables detection of copy number variations (CNVs) on the genome-wide scale with finer resolution compared to array-based methods, but suffers from biases and artifacts that lead to false discoveries and low sensitivity.
Yuchao Jiang +5 more
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Acquirement of DNA copy number variations in non-small cell lung cancer metastasis to the brain. [PDF]
Oncol Rep, 2015 Li F, Sun L, Zhang S.
europepmc +3 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 Żmieńko +7 more
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