Results 11 to 20 of about 475,380 (299)

Influence of DEFB4 copy number variants on gene expression in monocytes [PDF]

BMC Research Notes
Objective Beta-defensins, a group of antimicrobial peptides that can modulate immune response, are encoded by genes (DEFBs) on chromosome 8p23.1, a region subject to copy number variations (CNVs).
Xianghong Zhang, Tingting Wen, Christoph Lippuner, Marcel Schiff, Frank Stuber   +4 more
doaj   +2 more sources

Germline copy number variants and endometrial cancer risk. [PDF]

Hum Genet
AbstractKnown risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a genome-wide analysis of rare CNVs overlapping gene regions in 4115 endometrial cancer cases and 17,818 ...
Stylianou CE, Wiggins GAR, Lau VL, Dennis J, Shelling AN, Wilson M, Sykes P, Amant F, Annibali D, De Wispelaere W, Easton DF, Fasching PA, Glubb DM, Goode EL, Lambrechts D, Pharoah PDP, Scott RJ, Tham E, Tomlinson I, Bolla MK, Couch FJ, Czene K, Dörk T, Dunning AM, Fletcher O, García-Closas M, Hoppe R, ABCTB Investigators, Jernström H, Kaaks R, Michailidou K, Obi N, Southey MC, Stone J, Wang Q, Spurdle AB, O'Mara TA, Pearson J, Walker LC.   +38 more
europepmc   +8 more sources

CNVDeep: deep association of copy number variants with neurocognitive disorders [PDF]

BMC Bioinformatics
Background Copy number variants (CNVs) have become increasingly instrumental in understanding the etiology of all diseases and phenotypes, including Neurocognitive Disorders (NDs).
Zahra Rahaie, Hamid R. Rabiee, Hamid Alinejad-Rokny   +2 more
doaj   +2 more sources

An interaction-based model for neuropsychiatric features of copy-number variants.

PLoS Genetics, 2019
Variably expressive copy-number variants (CNVs) are characterized by extensive phenotypic heterogeneity of neuropsychiatric phenotypes. Approaches to identify single causative genes for these phenotypes within each CNV have not been successful.
Matthew Jensen, Santhosh Girirajan
doaj   +2 more sources

The individual and global impact of copy-number variants on complex human traits

American Journal of Human Genetics, 2022
Summary The impact of copy-number variations (CNVs) on complex human traits remains understudied. We called CNVs in 331,522 UK Biobank participants and performed genome-wide association studies (GWASs) between the copy number of CNV-proxy probes and 57 ...
C. Auwerx, M. Lepamets, M. Sadler, M. Patxot, M. Stojanov, D. Baud, R. Mägi, E. Porcu, A. Reymond, Z. Kutalik, T. Esko, A. Metspalu, L. Milani, M. Nelis   +13 more
semanticscholar   +1 more source

A comprehensive analysis of copy number variation in a Turkish dementia cohort

Human Genomics, 2021
Background Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases.
Nadia Dehghani, Gamze Guven, Celia Kun-Rodrigues, Catarina Gouveia, Kalina Foster, Hasmet Hanagasi, Ebba Lohmann, Bedia Samanci, Hakan Gurvit, Basar Bilgic, Jose Bras, Rita Guerreiro   +11 more
doaj   +1 more source

Effects of eight neuropsychiatric copy number variants on human brain structure

Translational Psychiatry, 2021
Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia.
C. Modenato, Kuldeep Kumar, C. Moreau, S. Martin-Brevet, G. Huguet, C. Schramm, M. Jean-Louis, Charles-Olivier Martin, N. Younis, P. Tamer, E. Douard, F. Thébault-Dagher, V. Côté, A.-R. Charlebois, F. Deguire, A. Maillard, B. Rodríguez-Herreros, A. Pain, S. Richetin, L. Melie-García, L. Kushan, Ana I. Silva, M. V. D. van den Bree, D. Linden, M. Owen, Jeremiah Hall, S. Lippé, M. Chakravarty, D. Bzdok, C. Bearden, Bogdan Draganski, S. Jacquemont, Ken Porche   +32 more
semanticscholar   +1 more source

Copy Number Variants: Mapping the Genome's ‘Land Mines’

BioTechniques, 2011
Jeffrey M. Perkel
doaj   +2 more sources

Psychopathology in adults with copy number variants [PDF]

Psychological Medicine, 2022
AbstractBackgroundCopy number variants (CNVs) have been associated with the risk of schizophrenia, autism and intellectual disability. However, little is known about their spectrum of psychopathology in adulthood.MethodsWe investigated the psychiatric phenotypes of adult CNV carriers and compared probands, who were ascertained through clinical genetics
Rachael L. Adams, Alister Baird, Jacqueline Smith, Nigel Williams, Marianne B. M. van den Bree, David E. J. Linden, Michael J. Owen, Jeremy Hall, Stefanie C. Linden   +8 more
openaire   +3 more sources

SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes

Frontiers in Genetics, 2020
Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Yue Xing, Yue Xing, Yue Xing, Alan R. Dabney, Xiao Li, Guosong Wang, Clare A. Gill, Claudio Casola   +7 more
doaj   +1 more source