Results 21 to 30 of about 289,756 (330)

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. [PDF]

BMC Genomics, 2015
Žilina O, Koltšina M, Raid R, Kurg A, Tõnisson N, Salumets A.   +5 more
europepmc   +3 more sources

Integrated Genome-Wide Analysis of Gene Expression and DNA Copy Number Variations Highlights Stem Cell-Related Pathways in Small Cell Esophageal Carcinoma. [PDF]

Stem Cells Int, 2018
Liu D, Xu X, Wen J, Xie L, Zhang J, Shen Y, Jiang G, Chen J, Fan M, Fan M.   +9 more
europepmc   +3 more sources

Germline DNA copy number variations as potential prognostic markers for non-muscle invasive bladder cancer progression. [PDF]

Oncol Lett, 2017
Yamamoto Y, Suehiro Y, Suzuki A, Nawata R, Kawai Y, Inoue R, Hirata H, Matsumoto H, Yamasaki T, Sasaki K, Matsuyama H.   +10 more
europepmc   +3 more sources

Distribution and functional impact of DNA copy number variation in the rat

Nature Genetics, 2008
The abundance and dynamics of copy number variants (CNVs) in mammalian genomes poses new challenges in the identification of their impact on natural and disease phenotypes. We used computational and experimental methods to catalog CNVs in rat and found that they share important functional characteristics with those in human. In addition, 113 one-to-one
Victor Guryev, Kathrin Saar, Tatjana Adamović, Mark Verheul, Sebastiaan van Heesch, Stuart A. Cook, Michal Pravenec, Timothy J. Aitman, Howard J. Jacob, James D. Shull, Norbert Hübner, Edwin Cuppen   +11 more
openalex   +5 more sources

ShinyCNV: a Shiny/R application to view and annotate DNA copy number variations. [PDF]

Bioinformatics, 2019
Gu Z, Mullighan CG.
europepmc   +3 more sources

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

Integration of DNA copy number alterations and transcriptional expression analysis in human gastric cancer. [PDF]

PLoS ONE, 2012
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, Somkid Dachrut, Ho Coral, Siu Tsan Yuen, Kent Man Chu, Simon Law, Lianhai Zhang, Jiafu Ji, Suet Yi Leung, Xin Chen   +9 more
doaj   +1 more source

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

European Journal of Medical Research, 2021
Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and
Taccyanna M. Ali, Emilia Mateu-Brull, Nuria Balaguer, Camila Dantas, Haline Risso Borges, Mariana Quintans Guerra de Oliveira, Lorena Rodrigo, Inmaculada Campos-Galindo, Roser Navarro, Miguel Milán   +9 more
doaj   +1 more source

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation. [PDF]

, 2017
Potential bias introduced during DNA isolation is inadequately explored, although it could have significant impact on downstream analysis. To investigate this in human brain, we isolated DNA from cerebellum and frontal cortex using spin columns under ...
A Bendich, A Koren, A Leo, A Pyle, Alan M. Pittman, AM D’Erchia, Anthony H. Schapira, Ayesha Ejaz, Aynur Soenmez, Christos Proukakis, Colin Grace, D Lindgren, D Sims, E Reznik, Elizabeth Nacheva, Emanuela Maserati, F Ye, FA Azevedo, GD Evrony, Henry Houlden, I Scheinin, Jan-Willem Taanman, JC Marioni, Jeong-Sun Seo, JF Huggett, K Jacobs, Katya Mokretar, L Aghili, L Atanesyan, L Kasak, L Kluwe, L Miotke, M Costantini, M O’Huallachain, M Sakai, MA van de Wiel, MG Ross, MJ McConnell, P Cozzi, R Aplenc, R Valli, Roberto Valli, S van Heesch, S Vattathil, S Vattathil, SE Antonarakis, Selina Vattathil, SJ Diskin, W Guo, X Cai   +49 more
core   +12 more sources

Genome Architecture and Its Roles in Human Copy Number Variation [PDF]

Genomics & Informatics, 2014
Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases.
Lu Chen, Weichen Zhou, Ling Zhang, Feng Zhang   +3 more
doaj   +1 more source