Results 21 to 30 of about 200,918 (285)

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

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

The role of DNA copy number variation in schizophrenia.

Biological Psychiatry, 2009
Schizophrenia is a major psychiatric disease with strong evidence of genetic risk factors. Recent studies based on genome-wide study of copy number variations (CNVs) have detected novel recurrent submicroscopic copy number changes, including recurrent deletions at 1q21.11, 15q11.3, 15q13.3, and the recurrent CNV at the 2p16.3 neurexin 1 locus.
Gloria W. C. Tam, R. Redon, N. Carter, S. Grant   +3 more
semanticscholar   +3 more sources

Mitochondrial DNA copy number variation across human cancers

eLife, 2016
Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project. We observe a tendency for some cancers, especially of the bladder, breast, and kidney, to be depleted of mtDNA, relative to matched
Reznik, Ed, Miller, Martin L, Şenbabaoğlu, Yasin, Riaz, Nadeem, Sarungbam, Judy, Tickoo, Satish K, Al-Ahmadie, Hikmat A, Lee, William, Seshan, Venkatraman E, Hakimi, A Ari, Sander, Chris   +10 more
openaire   +5 more sources

Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data [PDF]

Genomics & Informatics, 2012
In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery.
Soon-Young Kim, Ji-Hong Kim, Yeun-Jun Chung   +2 more
doaj   +1 more source

DNA Copy Number Variation Associated with Anti-tumour Necrosis Factor Drug Response and Paradoxical Psoriasiform Reactions in Patients with Moderate-to-severe Psoriasis

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, Alejandra Reolid, Laura H. Fisas, Ester Muñoz-Aceituno, Mar Llamas-Velasco, Antonio Sahuquillo-Torralba, Rafael Botella-Estrada, Jorge García-Martínez, Raquel Navarro, Esteban Daudén, Francisco Abad-Santos, Maria C. Ovejero-Benito   +11 more
doaj   +1 more source

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, Hyun-Seok, Kim, Martha A, Zeiger, Christopher B, Umbricht, Leslie M, Cope   +4 more
openaire   +2 more sources

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain [PDF]

Neural Plasticity, 2018
Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs). CNVs represent a significant source of genetic variation in the human genome and have been implicated in several disorders and complex traits ...
Darine Villela, Claudia K. Suemoto, Renata Leite, Carlos Augusto Pasqualucci, Lea T. Grinberg, Peter Pearson, Carla Rosenberg   +6 more
openaire   +5 more sources

Mitochondrial DNA copy number variation in asthma risk, severity, and exacerbations

Journal of Allergy and Clinical Immunology, 2023
AbstractRationaleAlthough airway oxidative stress and inflammation are central to asthma pathogenesis, there is limited knowledge of the relationship of asthma risk, severity, or exacerbations to mitochondrial dysfunction, which is pivotal to oxidant generation and inflammation.ObjectivesWe investigated whether mitochondrial DNA copy number (mtDNA-CN ...
Xu, Weiling, Hong, Yun Soo, Hu, Bo, Comhair, Suzy A. A., Janocha, Allison J., Zein, Joe G., Chen, Ruoying, Meyers, Deborah A., Mauger, David T., Ortega, Victor E., Bleecker, Eugene R., Castro, Mario, Denlinger, Loren C., Fahy, John V., Israel, Elliot, Levy, Bruce D., Jarjour, Nizar N., Moore, Wendy C., Wenzel, Sally E., Gaston, Benjamin, Liu, Chunyu, Arking, Dan E., Erzurum, Serpil C., National Heart, Lung, and Blood Institute (NHLBI) Severe Asthma Research Program (SARP) and TOPMed mtDNA Working Group in NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium   +23 more
openaire   +4 more sources