Results 1 to 10 of about 1,761,052 (374)

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

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

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

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

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

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, M. Wilson, J. Carlson, A. Harkess, David M. Emms, D. Goodstein, J. Schmutz   +8 more
semanticscholar   +1 more source

The Dynamic Fungal Genome: Polyploidy, Aneuploidy and Copy Number Variation in Response to Stress

Annual Review of Microbiology, 2023
Fungal species have dynamic genomes and often exhibit genomic plasticity in response to stress. This genome plasticity often comes with phenotypic consequences that affect fitness and resistance to stress.
Pétra Vande Zande, Xiaoping Zhou, Anna Selmecki   +2 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