Results 1 to 10 of about 791,272 (311)

PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data [PDF]

Genome Research, 2007
Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution of CNV detection in previous experimental designs has been limited to tens or hundreds of ...
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F.A. Grant, Hákon Hákonarson, Maja Bućan   +7 more
openalex   +2 more sources

Copy Number Variation: Methods and Clinical Applications

Applied Sciences, 2021
Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases.
Ondrej Pös, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, Tomas Szemes   +8 more
doaj   +2 more sources

β-Defensin gene copy number variation in cattle [PDF]

Royal Society Open Science
β-Defensins are peptides with antimicrobial roles, characterized by a conserved tertiary structure. Beyond antimicrobial functions, they exhibit diverse roles in both the immune response and fertility, including involvement in sperm maturation and ...
Ozge Sidekli, John Oketch, Sean Fair, Kieran G. Meade, Edward J. Hollox   +4 more
doaj   +3 more sources

Comprehensively benchmarking applications for detecting copy number variation.

PLoS Computational Biology, 2019
MOTIVATION:Recently, copy number variation (CNV) has gained considerable interest as a type of genomic variation that plays an important role in complex phenotypes and disease susceptibility.
Le Zhang, Wanyu Bai, Na Yuan, Zhenglin Du   +3 more
doaj   +2 more sources

Rare copy number variation in autoimmune Addison’s disease [PDF]

Frontiers in Immunology
Autoimmune Addison’s disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes ...
Haydee Artaza, Haydee Artaza, Daniel Eriksson, Daniel Eriksson, Ksenia Lavrichenko, Ksenia Lavrichenko, Maribel Aranda-Guillén, Eirik Bratland, Eirik Bratland, Eirik Bratland, Marc Vaudel, Marc Vaudel, Marc Vaudel, Per Knappskog, Per Knappskog, Eystein S. Husebye, Eystein S. Husebye, Sophie Bensing, Sophie Bensing, Anette S. B. Wolff, Anette S. B. Wolff, Anette S. B. Wolff, Olle Kämpe, Ellen C. Røyrvik, Ellen C. Røyrvik, Ellen C. Røyrvik, Stefan Johansson, Stefan Johansson   +27 more
doaj   +2 more sources

Elusive copy number variation in the mouse genome.

PLoS ONE, 2010
BackgroundArray comparative genomic hybridization (aCGH) to detect copy number variants (CNVs) in mammalian genomes has led to a growing awareness of the potential importance of this category of sequence variation as a cause of phenotypic variation.
Avigail Agam, Binnaz Yalcin, Amarjit Bhomra, Matthew Cubin, Caleb Webber, Christopher Holmes, Jonathan Flint, Richard Mott   +7 more
doaj   +2 more sources

GENESPACE tracks regions of interest and gene copy number variation across multiple genomes

eLife, 2022
The development of multiple chromosome-scale reference genome sequences in many taxonomic groups has yielded a high-resolution view of the patterns and processes of molecular evolution.
J. Lovell, A. Sreedasyam, M. Schranz, Melissa A. Wilson, J. Carlson, A. Harkess, David M. Emms, D. Goodstein, J. Schmutz   +8 more
semanticscholar   +1 more source

Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction

BMC Pregnancy and Childbirth, 2022
Background Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period.
Xinyue Meng, Lili Jiang
doaj   +1 more source

Genome-wide copy number variations in Bhutia equine breed using SNP genotyping data

Indian Journal of Animal Sciences, 2023
Copy number variants (CNVs) have dynamic potential and evolutionary significance like other genetic variants, namely, single nucleotide polymorphisms, InDels, short tandem repeat polymorphisms, inversion variants, etc.
NITESH KUMAR SHARMA, PRASHANT SINGH, BIBEK SAHA, ANURADHA BHARDWAJ, MIR ASIF IQUEBAL, YASH PAL, VARIJ NAYAN, SARIKA JAISWAL, SHIV KUMAR GIRI, RAM AVATAR LEGHA, T K BHATTACHARYA, DINESH KUMAR, ANIL RAI, BHUPENDRA NATH TRIPATHI   +13 more
doaj   +1 more source

CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing

bioRxiv, 2021
Detecting copy number variations (CNVs) and copy number alterations (CNAs) based on whole genome sequencing data is important for personalized genomics and treatment.
M. Šuvakov, Arijit Panda, Colin M. Diesh, I. Holmes, A. Abyzov   +4 more
semanticscholar   +1 more source