Results 11 to 20 of about 9,621,488 (249)

New cytogenetically visible copy number variant in region 8q21.2 [PDF]

Molecular Cytogenetics, 2011
Background Cytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy.
Ewers Elisabeth, Schmidt Catharina, Reichenbach Herbert, Ramel Christian, Kelbova Christina, Kläs Rüdiger, Lancé Jeannette, Cremer Friedrich W, Manvelyan Marina, Kreskowski Katharina, Ziegler Monika, Kosyakova Nadezda, Liehr Thomas   +12 more
doaj   +2 more sources

Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis. [PDF]

PLoS Computational Biology, 2020
Copy number variants (CNVs) are the gain or loss of DNA segments in the genome that can vary in dosage and length. CNVs comprise a large proportion of variation in human genomes and impact health conditions.
Amanda Brucker, Wenbin Lu, Rachel Marceau West, Qi-You Yu, Chuhsing Kate Hsiao, Tzu-Hung Hsiao, Ching-Heng Lin, Patrik K E Magnusson, Patrick F Sullivan, Jin P Szatkiewicz, Tzu-Pin Lu, Jung-Ying Tzeng   +11 more
doaj   +2 more sources

CNViz: An R/Shiny Application for Interactive Copy Number Variant Visualization in Cancer

Journal of Pathology Informatics, 2022
Copy number variants (CNVs) comprise a class of mutation which includes deletion, duplication, or amplification events that range in size from smaller than a single-gene or exon, to the size of a full chromosome.
Rebecca G. Ramesh, Ashkan Bigdeli, Chase Rushton, Jason N. Rosenbaum   +3 more
doaj   +2 more sources

Galactose starvation in a bloodstream form Trypanosoma brucei UDP-glucose 4'-epimerase conditional null mutant [PDF]

, 2006
Galactose metabolism is essential for the survival of Trypanosoma brucei, the etiological agent of African sleeping sickness. T. brucei hexose transporters are unable to transport galactose, which is instead obtained through the epimerization of UDP ...
Turnock, Daniel C., Ferguson, Michael A. J., Urbaniak, Michael D.   +2 more
core   +5 more sources

Whole genome resequencing of the Iranian native dogs and wolves to unravel variome during dog domestication

BMC Genomics, 2020
Background Advances in genome technology have simplified a new comprehension of the genetic and historical processes crucial to rapid phenotypic evolution under domestication. To get new insight into the genetic basis of the dog domestication process, we
Zeinab Amiri Ghanatsaman, Guo-Dong Wang, Hojjat Asadollahpour Nanaei, Masood Asadi Fozi, Min-Sheng Peng, Ali Esmailizadeh, Ya-Ping Zhang   +6 more
doaj   +1 more source

MCKAT: a multi-dimensional copy number variant kernel association test

BMC Bioinformatics, 2021
Background Copy number variants (CNVs) are the gain or loss of DNA segments in the genome. Studies have shown that CNVs are linked to various disorders, including autism, intellectual disability, and schizophrenia.
Nastaran Maus Esfahani, Daniel Catchpoole, Javed Khan, Paul J. Kennedy   +3 more
doaj   +1 more source

HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of Copy Number Variant, Copy Number Variation Region, and Runs of Homozygosity

Frontiers in Genetics, 2021
Detection of CNVs (copy number variants) and ROH (runs of homozygosity) from SNP (single nucleotide polymorphism) genotyping data is often required in genomic studies.
Jinghang Zhou, Jinghang Zhou, Liyuan Liu, Liyuan Liu, Thomas J. Lopdell, Dorian J. Garrick, Yuangang Shi   +6 more
doaj   +1 more source

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact [PDF]

, 2022
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation between independent CNVs can ...
Commission on Novel Technologies for Neurodevelopmental Copy Number Variants
core   +1 more source

Copy number, linkage disequilibrium and disease association in the FCGR locus [PDF]

, 2010
The response of a leukocyte to immune complexes (ICs) is modulated by receptors for the Fc region of IgG (FcgammaRs), and alterations in their affinity or function have been associated with risk of autoimmune diseases, including systemic lupus ...
Padyukov, L, T. F. Rayner, Willcocks, Lisa C, W. Yang, L. C. Willcocks, J. A. G. Scott, S. J. Dunstan, Rayner, Tim F, I. Gunnarsson, Niederer, Heather A., Smith, KG, Peshu, N, B. C. Urban, Svenungsson, Elisabet, Scott, John, Clayton, David G., P. A. Lyons, Niederer, Heather A, Williams, TN, Lyons, Paul A., Urban, Britta, Scott, J. Anthony G., Y. L. Lau, Yang, Wanling, Williams, Thomas N., Willcocks, LC, L. Padyukov, Clayton, David G, N. Peshu, Watts, Richard A., Savage, Caroline, Yang, W, Dunstan, SJ, Dunstan, Sarah, Urban, BC, Watts, RA, N. H. Phu, T. T. Hien, Phu, Nguyen Hoan, Rayner, TF, Scott, JAG, Hien, Tran, Willcocks, Lisa C., Clayton, DG, Savage, CO, Lyons, PA, T. N. Williams, E. Svenungsson, K. G. C. Smith, Rayner, Tim F., Hien, TT, Hien, Tran Tinh, Svenungsson, E, Padyukov, Leonid, Smith, Kenneth G.C., Gunnarsson, I, Savage, Caroline O, Smith, Kenneth G C, Gunnarsson, Iva, Peshu, Norbert, Lau, YL, Phu, NH, Smith, KGC, Lau, Yu Lung, R. A. Watts, Watts, Richard A, Savage, Caroline O., Scott, JA, H. A. Niederer, Scott, J Anthony G, Urban, Britta C, Smith, Kenneth GC, Williams, Thomas N, C. O. Savage, D. G. Clayton, Niederer, HA, Williams, Thomas, Dunstan, Sarah J., Dunstan, Sarah J, Lyons, Paul A   +79 more
core   +2 more sources

Somatic Copy Number Alteration detection and Copy Number signature analysis in High-Grade Serous Ovarian Cancer [PDF]

, 2022
openSomatic copy number alterations (sCNAs) are a type of genomic variation that affects the dosage of DNA sequences promoting tumorigenesis such as in High grade serous ovarian cancer.
MICOLI, GIULIA
core