Results 21 to 30 of about 106,656 (293)

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

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

AthCNV: A Map of DNA Copy Number Variations in the Arabidopsis Genome [PDF]

The Plant Cell, 2020
Abstract Copy number variations (CNVs) greatly contribute to intraspecies genetic polymorphism and phenotypic diversity. Recent analyses of sequencing data for >1000 Arabidopsis (Arabidopsis thaliana) accessions focused on small variations and did not include CNVs.
Wojciech M. Karlowski, Piotr Kozlowski, Malgorzata Marszalek-Zenczak, Magdalena Luczak, Anna Samelak-Czajka, Agnieszka Zmienko, Agnieszka Zmienko, Paweł T. Wojciechowski, Paweł T. Wojciechowski, Marek Figlerowicz, Marek Figlerowicz   +10 more
openaire   +2 more sources

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.
Tomas W Fitzgerald, Shurnevia Strickland, Peter K. Kaiser, Hans H. Cheng, Mark Fife, Richard P. M. A. Crooijmans, Richard Redon, Richard Redon, Martien A. M. Groenen   +8 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

Variations in ribosomal DNA copy numbers in a genome of Trichophyton interdigitale [PDF]

Mycoses, 2020
SummaryBackgroundRibosomal DNA (rDNA) reportedly has multiple copies in the fungal genome. The internal transcribed spacer (ITS) region in rDNA is useful for investigating relationships between close taxonomic relatives. Thus, ITS has been widely used as a target gene in medical mycology for the detection of pathogenic fungi and identification of ...
Tomoyuki Iwanaga, Kazushi Anzawa, Takashi Mochizuki   +2 more
openaire   +2 more sources

The screening and ranking algorithm to detect DNA copy number variations [PDF]

The Annals of Applied Statistics, 2012
DNA Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation that likely influences phenotypic differences. Many statistical and computational methods have been proposed and applied to detect CNVs based on data that generated by genome analysis platforms.
Niu, Yue S., Zhang, Heping
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   +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   +5 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