Results 1 to 10 of about 272,726 (306)

Benchmarking scRNA-seq copy number variation callers [PDF]

Nature Communications
Copy number variations (CNVs), the gain or loss of genomic regions, are associated with disease, especially cancer. Single cell technologies offer new possibilities to capture within-sample heterogeneity of CNVs and identify subclones relevant for tumor ...
Katharina T. Schmid, Aikaterini Symeonidi, Dmytro Hlushchenko, Maria L. Richter, Andréa E. Tijhuis, Floris Foijer, Maria Colomé-Tatché   +6 more
doaj   +2 more sources

Copy number variation in Thai population. [PDF]

PLoS ONE, 2014
Copy number variation (CNV) is a major genetic polymorphism contributing to genetic diversity and human evolution. Clinical application of CNVs for diagnostic purposes largely depends on sufficient population CNV data for accurate interpretation.
Bhoom Suktitipat, Chaiwat Naktang, Wuttichai Mhuantong, Thitima Tularak, Paramita Artiwet, Ekawat Pasomsap, Wallaya Jongjaroenprasert, Suthat Fuchareon, Surakameth Mahasirimongkol, Wasan Chantratita, Boonsit Yimwadsana, Varodom Charoensawan, Natini Jinawath   +12 more
doaj   +4 more sources

Copy Number Variation at the APOL1 Locus. [PDF]

PLoS ONE, 2015
Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative risk of kidney disease ...
Rupam Ruchi, Giulio Genovese, Jessica Lee, Victoria T Charoonratana, Andrea J Bernhardy, Seth L Alper, Jeffrey B Kopp, Ravi Thadhani, David J Friedman, Martin R Pollak   +9 more
doaj   +6 more sources

Copy number variation in the horse genome. [PDF]

PLoS Genetics, 2014
We constructed a 400K WG tiling oligoarray for the horse and applied it for the discovery of copy number variations (CNVs) in 38 normal horses of 16 diverse breeds, and the Przewalski horse.
Sharmila Ghosh, Zhipeng Qu, Pranab J Das, Erica Fang, Rytis Juras, E Gus Cothran, Sue McDonell, Daniel G Kenney, Teri L Lear, David L Adelson, Bhanu P Chowdhary, Terje Raudsepp   +11 more
doaj   +5 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   +2 more sources

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

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
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Copy Number Variation in Inflammatory Breast Cancer

Cells, 2023
Identification of a unique genomic biomarker in de novo inflammatory breast cancer (IBC) may provide an insight into the biology of this aggressive disease. The goal of our study was to elucidate biomarkers associated with IBC.
Aditi Hazra, Andrea O’Hara, Kornelia Polyak, Faina Nakhlis, Beth T. Harrison, Antonio Giordano, Beth Overmoyer, Filipa Lynce   +7 more
doaj   +1 more source

Copy number variation in African Americans

BMC Genetics, 2009
Background Copy number variants (CNVs) have been identified in several studies to be associated with complex diseases. It is important, therefore, to understand the distribution of CNVs within and among populations.
Caillier Stacy J, Nelson Matthew R, McElroy Joseph P, Oksenberg Jorge R   +3 more
doaj   +1 more source