Results 21 to 30 of about 1,761,319 (295)

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

Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases

Arthritis & Rheumatology, 2022
Copy number variation of the C4 complement components, C4A and C4B, has been associated with systemic inflammatory autoimmune diseases. This study was undertaken to investigate whether C4 copy number variation is connected to the autoimmune repertoire in
C. Lundtoft, P. Pucholt, Myriam Martin, M. Bianchi, E. Lundström, M. Eloranta, J. Sandling, C. Sjöwall, A. Jönsen, I. Gunnarsson, S. Rantapää-Dahlqvist, A. Bengtsson, D. Leonard, E. Baecklund, R. Jonsson, D. Hammenfors, H. Forsblad-d’Elia, P. Eriksson, T. Mandl, S. Magnusson Bucher, Katrine B. Norheim, Svein Joar Auglænd Johnsen, R. Omdal, M. Kvarnström, M. Wahren-Herlenius, A. Notarnicola, H. Andersson, Ø. Molberg, L. Diederichsen, J. Almlöf, A. Syvänen, S. Kozyrev, K. Lindblad-Toh, Bo E. Nilsson, A. Blom, I. Lundberg, G. Nordmark, L. Diaz-Gallo, E. Svenungsson, L. Rönnblom   +39 more
semanticscholar   +1 more source

Progress in Methods for Copy Number Variation Profiling

International Journal of Molecular Sciences, 2022
Copy number variations (CNVs) are the predominant class of structural genomic variations involved in the processes of evolutionary adaptation, genomic disorders, and disease progression.
V. Gordeeva, E. Sharova, G. Arapidi
semanticscholar   +1 more source

Copy number variations and stroke [PDF]

Neurological Sciences, 2016
Stroke is the third leading cause of death worldwide after heart disease and all forms of cancers. Monogenic disorders, genetic, and environmental risk factors contribute to damaging cerebral blood vessels and, consequently, cause stroke. Developments in genomic research led to the discovery of numerous copy number variants (CNVs) that have been ...
Colaianni V, Mazzei R, Cavallaro S
openaire   +4 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   +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

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

bioRxiv, 2021
Background Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. The clinically relevant CNVs are hard to detect because CNVs are common structural variations that define large parts of the normal human ...
M. Gabrielaitė, Mathias H. Torp, M. S. Rasmussen, S. Andreu-Sánchez, F. G. Vieira, C. B. Pedersen, Savvas Kinalis, M. Madsen, C. Yde, Lars Rønn Olsen, R. Marvig, O. Østrup, M. Rossing, F. Nielsen, O. Winther, F. O. Bagger   +15 more
semanticscholar   +1 more source

Copy number variations and cancer [PDF]

Genome Medicine, 2009
DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional (germline) CNVs has provided insight into their role in ...
Adam Shlien, David Malkin
openaire   +3 more sources

Copy Number Variation in Schizophrenia [PDF]

Neuropsychopharmacology, 2014
Copy number variation contributes substantially to human evolution, normal phenotypic variation, and human disease (Malhotra and Sebat, 2012). To date, thousands of different genomic duplications and deletions, each spanning hundreds to millions of basepairs, have been mapped genome-wide, and collectively account for a significant fraction of human ...
Suleyman Gulsuner, Jon McClellan
openaire   +2 more sources

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