Results 11 to 20 of about 200,918 (285)

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, Cope L, Sun W, Wang Y, Prasad N, Sangenario L, Talbot K, Somervell H, Westra W, Bishop J, Califano J, Zeiger M, Umbricht C.   +12 more
europepmc   +4 more sources

THE SCREENING AND RANKING ALGORITHM TO DETECT DNA COPY NUMBER VARIATIONS. [PDF]

The Annals of Applied Statistics, 2012
DNA Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation that likely influences phenotypic differences.
Yue Niu, Heping Zhang
semanticscholar   +6 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, Jie Li, Wan-Jun Wang, David S. Cram, Wei Liu, Pei-Xuan Cao, Xiang-Yu Zhu, Ya-Li Hu   +7 more
doaj   +3 more sources

Nanopore sequencing from liquid biopsy: analysis of copy number variations from cell-free DNA of lung cancer patients

Molecular Cancer, 2021
In the “precision oncology” era the characterization of tumor genetic features is a pivotal step in cancer patients’ management. Liquid biopsy approaches, such as analysis of cell-free DNA from plasma, represent a powerful and noninvasive strategy to ...
Filippo Martignano, Uday Munagala, S. Crucitta, A. Mingrino, R. Semeraro, M. Del Re, I. Petrini, A. Magi, S. Conticello   +8 more
semanticscholar   +3 more sources

AthCNV: A Map of DNA Copy Number Variations in the Arabidopsis Genome[OPEN] [PDF]

The Plant Cell, 2020
A catalog of large copy number variations (CNVs), CNV-overlapping genes, and their genotypes in 1060 Arabidopsis accessions will stimulate studies on the genetic basis of phenotypic variation.
A. Zmienko, Małgorzata Marszałek-Zeńczak, Pawel Wojciechowski, A. Samelak-Czajka, M. Luczak, P. Kozłowski, W. Karłowski, M. Figlerowicz   +7 more
semanticscholar   +3 more sources

Cell-Free DNA From Metastatic Pancreatic Neuroendocrine Tumor Patients Contains Tumor-Specific Mutations and Copy Number Variations

Frontiers in Oncology, 2018
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, Gitta Boons, Timon Vandamme, Timon Vandamme, Timon Vandamme, Timon Vandamme, Marc Peeters, Marc Peeters, Matthias Beyens, Matthias Beyens, Ann Driessen, Katrien Janssens, Karen Zwaenepoel, Geert Roeyen, Guy Van Camp, Ken Op de Beeck, Ken Op de Beeck   +16 more
doaj   +2 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.
N. Wineinger, Richard E. Kennedy, Stephen Erickson, M. Wojczynski, C. Bruder, H. Tiwari   +5 more
semanticscholar   +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, Kathleen Rooney, Tessa MA Trooster, Marcel MAM Mannens, Bekim Sadikovic, Peter Henneman   +5 more
openaire   +3 more sources

sciCNV: high-throughput paired profiling of transcriptomes and DNA copy number variations at single-cell resolution

Briefings Bioinform., 2021
Chromosome copy number variations (CNVs) are a near-universal feature of cancer; however, their individual effects on cellular function are often incompletely understood.
A. Mahdipour-Shirayeh, N. Erdmann, Chungyee Leung-Hagesteijn, R. Tiedemann   +3 more
semanticscholar   +1 more source

Examining neurodevelopmental problems in 15q11.2 (BP1‐BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample

Molecular Genetics & Genomic Medicine, 2023
Background Several copy number variations (CNVs) are associated with increased risk for neurodevelopmental and psychiatric disorders. The CNV 15q11.2 (BP1‐BP2) deletion has been associated with learning difficulties, attention deficit hyperactivity ...
Lina Jonsson, Joanna Martin, Paul Lichtenstein, Patrik K. E. Magnusson, Sebastian Lundström, Lars Westberg, Kristiina Tammimies   +6 more
doaj   +1 more source