Results 31 to 40 of about 176,003 (260)

Identification of Copy Number Variations in Xiang and Kele Pigs. [PDF]

open access: yesPLoS ONE, 2016
Xiang and Kele pigs are two well-known local Chinese pig breeds that possess rich genetic resources and have enormous economic and scientific value. We performed a comprehensive genomic analysis of the copy number variations (CNVs) in these breeds.
Jian Xie   +6 more
doaj   +1 more source

Copy number variations of five Y chromosome genes in donkeys [PDF]

open access: yesArchives Animal Breeding, 2017
In mammals, the Y chromosome plays a pivotal role in male sex determination and is essential for normal sperm production. A number of studies were conducted on Y chromosome genes of various species and identified single-copy and multi-copy genes ...
H. Han   +5 more
doaj   +1 more source

The variome concept: focus on CNVariome

open access: yesMolecular Cytogenetics, 2019
Background Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of genetic ...
Ivan Y. Iourov   +2 more
doaj   +1 more source

Eight Y chromosome genes show copy number variations in horses [PDF]

open access: yesArchives Animal Breeding, 2018
Copy number variations (CNVs), which represent a significant source of genetic diversity on the Y chromosome in mammals, have been shown to be associated with the development of many complex phenotypes, such as reproduction and male fertility.
H. Han   +6 more
doaj   +1 more source

Potential Value of Genomic Copy Number Variations in Schizophrenia

open access: yesFrontiers in Molecular Neuroscience, 2017
Schizophrenia is a devastating neuropsychiatric disorder affecting approximately 1% of the global population, and the disease has imposed a considerable burden on families and society.
Chuanjun Zhuo   +6 more
doaj   +1 more source

Web-Based Database and Viewer of East Asian Copy Number Variations [PDF]

open access: yesGenomics & Informatics, 2012
We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in
Ji-Hong Kim, Hae-Jin Hu, Yeun-Jun Chung
doaj   +1 more source

dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations

open access: yesBMC Genomics, 2023
Background Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize the relationship between these variants and
Kangqi Lv   +6 more
doaj   +1 more source

X-CNV: genome-wide prediction of the pathogenicity of copy number variations

open access: yesGenome Medicine, 2021
Background Gene copy number variations (CNVs) contribute to genetic diversity and disease prevalence across populations. Substantial efforts have been made to decipher the relationship between CNVs and pathogenesis but with limited success.
Li Zhang   +12 more
doaj   +1 more source

Copy Number Variation of Circulating Tumor DNA (ctDNA) Detected Using NIPT in Neoadjuvant Chemotherapy-Treated Ovarian Cancer Patients

open access: yesFrontiers in Genetics, 2022
Analysis of circulating tumor DNA (ctDNA) can be used to characterize and monitor cancers. Recently, non-invasive prenatal testing (NIPT) as a new next-generation sequencing (NGS)-based approach has been applied for detecting ctDNA.
Mina Sharbatoghli   +12 more
doaj   +1 more source

Human subtelomeric copy number variations [PDF]

open access: yesCytogenetic and Genome Research, 2008
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions (‘Subtelomeric Repeats’) comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an ...
openaire   +2 more sources

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