Results 21 to 30 of about 125,484 (288)

Influence of environmental factors and genetic variation on mitochondrial DNA copy number

Journal of Animal Science, 2022
Abstract Mitochondrial DNA copy number (mtDNA CN) has been shown to be highly heritable and associated with traits of interest in humans. However, studies are lacking in the literature for livestock species such as beef cattle. In this study, 2,371 individuals from a crossbred beef population comprising the Germplasm Evaluation program ...
Leticia P Sanglard, Larry A Kuehn, Warren M Snelling, Matthew L Spangler   +3 more
openaire   +4 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

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

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

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

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

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

Identifying Copy Number Variations based on Next Generation Sequencing Data by a Mixture of Poisson Model [PDF]

, 2010
Next generation sequencing (NGS) technologies have profoundly impacted biological research and are becoming more and more popular due to cost effectiveness and their speed.
Andreas Mayr, Günter Klambauer, Sepp Hochreiter, Karin Schwarzbauer, Günter Klambauer   +4 more
core   +2 more sources

Copy number variants and selective sweeps in natural populations of the house mouse (Mus musculus domesticus) [PDF]

, 2014
Copy–number variants (CNVs) may play an important role in early adaptations, potentially facilitating rapid divergence of populations. We describe an approach to study this question by investigating CNVs present in natural populations of mice in the ...
Diethard eTautz, JarosÅ‚aw Bryk, Bryk, Jarek, Tautz, D. ; https://orcid.org/, Jarosław eBryk, Bryk, J., Diethard Tautz, Tautz, Diethard   +7 more
core   +2 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