Results 21 to 30 of about 122,389 (248)

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.
Crooijmans, Richard, Fife, Mark, Fitzgerald, Tomas, Strickland, Shurnevia, Cheng, Hans, Kaiser, Pete, Redon, Richard, Groenen, Martien   +7 more
openaire   +4 more sources

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

Bioinformatics, 2019
Abstract Motivation Single nucleotide polymorphism (SNP) array is the most widely used platform to assess somatic copy number variations (CNVs) in cancer studies. Many SNP data-based CNV callers are available, however, the false positive rates from automated calling are commonly high, and reported ...
Gu Z, Mullighan CG.
europepmc   +4 more sources

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

Journal of Allergy and Clinical Immunology, 2023
Abstract Rationale Although 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.
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   +5 more sources

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   +3 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

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

Quantification of Plasmid Copy Number with Single Colour Droplet Digital PCR. [PDF]

PLoS ONE, 2017
Bacteria can be considered as biological nanofactories that manufacture a cornucopia of bioproducts most notably recombinant proteins. As such, they must perfectly match with appropriate plasmid vectors to ensure successful overexpression of target genes.
Magdalena Plotka, Mateusz Wozniak, Tadeusz Kaczorowski   +2 more
doaj   +1 more source

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

Copy Number Variations Analysis Identifies QPRT as a Candidate Gene Associated With Susceptibility for Solitary Functioning Kidney

Frontiers in Genetics, 2021
BackgroundThe lack of understanding of molecular pathologies of the solitary functioning kidney makes improving and strengthening the continuity of care between pediatric and adult nephrological patients difficult.
Xiao Y. Zhou, Hao Y. Zheng, Li Han, Yan Wang, Li Zhang, Xiao M. Shu, Mu L. Zhang, Guan N. Liu, Lian S. Ding   +8 more
doaj   +1 more source

Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos [PDF]

Genomics & Informatics, 2014
Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies.
Jin Ok Yang, Sohyun Hwang, Woo-Yeon Kim, Seong-Jin Park, Sang Cheol Kim, Kiejung Park, Byungwook Lee,   +7 more
doaj   +1 more source