Results 11 to 20 of about 162,786 (255)

The effect of algorithms on copy number variant detection. [PDF]

PLoS ONE, 2010
The detection of copy number variants (CNVs) and the results of CNV-disease association studies rely on how CNVs are defined, and because array-based technologies can only infer CNVs, CNV-calling algorithms can produce vastly different findings.
Debby W Tsuang, Steven P Millard, Benjamin Ely, Peter Chi, Kenneth Wang, Wendy H Raskind, Sulgi Kim, Zoran Brkanac, Chang-En Yu   +8 more
doaj   +4 more sources

Understanding the impact of 1q21.1 copy number variant [PDF]

Orphanet Journal of Rare Diseases, 2011
Background 1q21.1 Copy Number Variant (CNV) is associated with a highly variable phenotype ranging from congenital anomalies, learning deficits/intellectual disability (ID), to a normal phenotype.
Harvard Chansonette, Strong Emma, Mercier Eloi, Colnaghi Rita, Alcantara Diana, Chow Eva, Martell Sally, Tyson Christine, Hrynchak Monica, McGillivray Barbara, Hamilton Sara, Marles Sandra, Mhanni Aziz, Dawson Angelika J, Pavlidis Paul, Qiao Ying, Holden Jeanette J, Lewis Suzanne ME, O'Driscoll Mark, Rajcan-Separovic Evica   +19 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

CNV-P: a machine-learning framework for predicting high confident copy number variations [PDF]

PeerJ, 2021
Background Copy-number variants (CNVs) have been recognized as one of the major causes of genetic disorders. Reliable detection of CNVs from genome sequencing data has been a strong demand for disease research.
Taifu Wang, Jinghua Sun, Xiuqing Zhang, Wen-Jing Wang, Qing Zhou   +4 more
doaj   +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

A genome-wide copy number variant study of suicidal behavior. [PDF]

PLoS ONE, 2015
Suicide and suicide attempts are complex behaviors that result from the interaction of different factors, including genetic variants that increase the predisposition to suicidal behaviors.
Jeffrey A Gross, Alexandre Bureau, Jordie Croteau, Hanga Galfalvy, Maria A Oquendo, Fatemeh Haghighi, Chantal Mérette, Ina Giegling, Colin Hodgkinson, David Goldman, Dan Rujescu, J John Mann, Gustavo Turecki   +12 more
doaj   +1 more source

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

Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings

Frontiers in Genetics, 2023
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy number variants (CNVs) in coding exonic regions of the genome in a single ...
Nadja Louw, Nadia Carstens, Nadia Carstens, Zané Lombard, for DDD-Africa as members of the H3Africa Consortium   +4 more
doaj   +1 more source