Results 31 to 40 of about 289,756 (330)

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 changes define spatial patterns of heterogeneity in colorectal cancer [PDF]

, 2017
Genetic heterogeneity between and within tumours is a major factor determining cancer progression and therapy response. Here we examined DNA sequence and DNA copy-number heterogeneity in colorectal cancer (CRC) by targeted high-depth sequencing of 100 ...
Aust, Daniela, Childs, Liam Harold, Heim, Daniel, Mamlouk, Soulafa, Melching, Friederike, Oliveira, Cristiano, Sers, Christine [u. v. m.]   +6 more
core   +1 more source

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

Identifying Copy Number Variants under Selection in Geographically Structured Populations Based on -statistics [PDF]

Genomics & Informatics, 2012
Large-scale copy number variants (CNVs) in the human provide the raw material for delineating population differences, as natural selection may have affected at least some of the CNVs thus far discovered.
Hae-Hiang Song, Hae-Jin Hu, In-Hae Seok, Yeun-Jun Chung   +3 more
doaj   +1 more source

A normalization technique for next generation sequencing experiments [PDF]

, 2010
Next generation sequencing (NGS) are these days one of the key technologies in biology. NGS' cost effectiveness and capability of finding the smallest variations in the genome makes them increasingly popular.
Andreas Mayr, Günter Klambauer, Günter Klambauer, Karin Schwarzbauer, Sepp Hochreiter   +4 more
core   +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   +4 more sources

Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus

BMC Genomics, 2010
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, Hong Eun-Jung, Ryu Gil-Mi, Nam Hye-Young, Shim Sung-Mi, Jeon Jae-Pil, Han Bok-Ghee   +6 more
doaj   +1 more source

Germline copy number variation in the YTHDC2 gene: does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcinoma susceptibility? [PDF]

, 2014
Objective: The vast majority of pancreatic cancers occurs sporadically. The discovery of frequent variations in germline gene copy number can significantly influence the expression levels of genes that predispose to pancreatic adenocarcinoma.
BAZAN, Viviana, Belleau, P, Berthezene, P, BRONTE, Giuseppe, Calvo, E, CICERO, Giuseppe, Dagorn, J, FANALE, Daniele, Iovanna, J, Rolfo, C, RUSSO, Antonio, Santini, D   +11 more
core   +1 more source

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.
Nathan E, Wineinger, Richard E, Kennedy, Stephen W, Erickson, Mary K, Wojczynski, Carl E, Bruder, Hemant K, Tiwari   +5 more
openaire   +2 more sources