Results 11 to 20 of about 502,320 (296)

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

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

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

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease [PDF]

American Journal of Human Genetics
Gabrielle T Lemire, Samantha Baxter, Moriel H Singer-Berk   +2 more
exaly   +2 more sources

Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]

, 2020
Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena, Bannasch, Danika, Grahn, Robert, Kallenberg, Angelica, Rebhun, Robert, Weich, Kalie, York, Daniel   +6 more
core   +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