Results 11 to 20 of about 1,217,732 (304)

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 across European populations.

PLoS ONE, 2011
Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide ...
Wanting Chen, Caroline Hayward, Alan F Wright, Andrew A Hicks, Veronique Vitart, Sara Knott, Sarah H Wild, Peter P Pramstaller, James F Wilson, Igor Rudan, David J Porteous   +10 more
doaj   +4 more sources

Mitochondrial DNA copy number variation across human cancers [PDF]

eLife, 2016
Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project.
Ed Reznik, Martin L Miller, Yasin Şenbabaoğlu, Nadeem Riaz, Judy Sarungbam, Satish K Tickoo, Hikmat A Al-Ahmadie, William Lee, Venkatraman E Seshan, A Ari Hakimi, Chris Sander   +10 more
doaj   +3 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 in bipolar disorder. [PDF]

Molecular Psychiatry, 2015
Large (>100 kb), rare (500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10(-4))
A McQuillin, Cross-Disorder Group of the Psychiatric Genomics Consortium, D Grozeva, D Grozeva, D Grozeva, D Malhotra, D Malhotra, D Zhang, E K Green, E Rees, E Rees, E Rees, EK Green, EK Green, F Degenhardt, G Genovese, G Kirov, G Kirov, G Kirov, I Jones, J L Moran, J T R Walters, JI Nurnberger Jr, JK Wing, K D Chambert, K-G Smith, L Forty, L Georgieva, L Jones, L Priebe, M C O'Donovan, M J Owen, MJ Owen, ML Hamshere, N Craddock, N Craddock, N Craddock, NM Williams, P Sklar, P Sklar, RL Spitzer, RM Murray, S A McCarroll, S Girirajan, S Girirajan, S Purcell, S Purcell, S Ripke, S Steinberg, Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, SE Bergen, SE McCarthy, SM Purcell   +53 more
core   +7 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

Copy Number Variations and Schizophrenia

Molecular Neurobiology, 2022
Abstract Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to the development of schizophrenia is a subject of extensive research activity, as reliable data regarding its aetiology would enable the improvement of its therapy and the development of new methods ...
Kamila Szecówka, Błażej Misiak, Izabela Łaczmańska, Dorota Frydecka, Ahmed A. Moustafa   +4 more
openaire   +3 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
doaj   +1 more source