Results 11 to 20 of about 188,720 (256)

Copy number variants in German patients with schizophrenia. [PDF]

PLoS ONE, 2013
Large rare copy number variants (CNVs) have been recognized as significant genetic risk factors for the development of schizophrenia (SCZ). However, due to their low frequency (1∶150 to 1∶1000) among patients, large sample sizes are needed to detect an ...
Lutz Priebe, Franziska Degenhardt, Jana Strohmaier, René Breuer, Stefan Herms, Stephanie H Witt, Per Hoffmann, Rebecca Kulbida, Manuel Mattheisen, Susanne Moebus, Andreas Meyer-Lindenberg, Henrik Walter, Rainald Mössner, Igor Nenadic, Heinrich Sauer, Dan Rujescu, Wolfgang Maier, Marcella Rietschel, Markus M Nöthen, Sven Cichon   +19 more
doaj   +9 more sources

Bias of selection on human copy-number variants. [PDF]

PLoS Genetics, 2006
Although large-scale copy-number variation is an important contributor to conspecific genomic diversity, whether these variants frequently contribute to human phenotype differences remains unknown.
Duc-Quang Nguyen, Caleb Webber, Chris P Ponting   +2 more
doaj   +5 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

On the frequency of copy number variants [PDF]

Bioinformatics, 2008
Abstract Motivation: Estimating the frequency distribution of copy number variants (CNVs) is an important aspect of the effort to characterize this new type of genetic variation. Currently, most studies report a strong skew toward low-frequency CNVs. In this article, our goal is to investigate the frequencies of CNVs.
Iuliana Ionita-Laza, Nan M. Laird, Benjamin A. Raby, Scott T. Weiss, Christoph Lange 0003   +4 more
openaire   +2 more sources

Copy number variants in pharmacogenetic genes [PDF]

Trends in Molecular Medicine, 2011
Variation in drug efficacy and toxicity remains an important clinical concern. Presently, single nucleotide polymorphisms (SNP) only explain a portion of this problem, even in situations where the pharmacological trait is clearly heritable. The Human CNV Project identified copy number variations (CNVs) across approximately 12% of the human genome, and ...
Yijing, He, Janelle M, Hoskins, Howard L, McLeod   +2 more
openaire   +2 more sources

Identification of copy number variants in horses [PDF]

Genome Research, 2012
Copy number variants (CNVs) represent a substantial source of genetic variation in mammals. However, the occurrence of CNVs in horses and their subsequent impact on phenotypic variation is unknown. We performed a study to identify CNVs in 16 horses representing 15 distinct breeds (Equus caballus) and an individual gray donkey (Equus asinus) using a ...
Ryan, Doan, Noah, Cohen, Jessica, Harrington, Kylee, Veazey, Kylee, Veazy, Rytis, Juras, Gus, Cothran, Molly E, McCue, Loren, Skow, Scott V, Dindot   +9 more
openaire   +3 more sources

The Coalescent with Selection on Copy Number Variants [PDF]

Genetics, 2012
AbstractWe develop a coalescent-based simulation tool to generate patterns of single nucleotide polymorphisms (SNPs) in a wide region encompassing both the original and duplicated genes. Selection on the new duplicated copy and interlocus gene conversion between the two copies are incorporated.
Kosuke M, Teshima, Hideki, Innan
openaire   +2 more sources

Mitochondrial DNA Haplogroups and Variants Predispose to Chagas Disease Cardiomyopathy

Hearts, 2023
Cardiomyopathies are major causes of heart failure. Chagas disease (CD) is caused by the parasite Trypanosoma cruzi, and it is endemic in Central and South America.
Frédéric Gallardo, Pauline Brochet, David Goudenège, João Paulo Silva Nunes, Pauline Andrieux, Barbara Maria Ianni, Amanda Farage Frade, Charles Mady, Ronaldo Honorato Barros Santos, Andreia Kuramoto, Samuel Steffen, Antonio Noedir Stolf, Pablo Pomerantzeff, Alfredo Inacio Fiorelli, Edimar Alcides Bocchi, Cristina Wide Pissetti, Bruno Saba, Fabrício C. Dias, Marcelo Ferraz Sampaio, Fabio Antônio Gaiotto, José Antonio Marin-Neto, Abílio Fragata, Ricardo Costa Fernandes Zaniratto, Sergio Siqueira, Giselle De Lima Peixoto, Fernando Bacal, Paula Buck, Rafael Ribeiro Almeida, Hui Tzu Lin-Wang, André Schmidt, Mario Hiroyuki Hirata, Eduardo Antonio Donadi, Alexandre Costa Pereira, Virmondes Rodrigues Junior, Martino Martinelli, Michel Naslavsky, Jorge Kalil, Vincent Procaccio, Edecio Cunha-Neto, Christophe Chevillard   +39 more
doaj   +1 more source

Copy Number Variants in Epileptic Encephalopathy

Pediatric Neurology Briefs, 2012
An international group of investigators at University of Washington, Seattle, USA, and various centers in Australia, New Zealand, Canada, and Israel evaluated 315 patients with epileptic encephalopathies for rare copy number variants (CNVs) using a whole-
J Gordon Millichap
doaj   +1 more source

Association testing of copy number variants in schizophrenia and autism spectrum disorders

Journal of Neurodevelopmental Disorders, 2012
Background Autism spectrum disorders and schizophrenia have been associated with an overlapping set of copy number variant loci, but the nature and degree of overlap in copy number variants (deletions compared to duplications) between these two disorders
Crespi Bernard J, Crofts Helen J
doaj   +1 more source