Results 11 to 20 of about 254,836 (309)
Copy number variation in the horse genome. [PDF]
PLoS Genetics, 2014 We constructed a 400K WG tiling oligoarray for the horse and applied it for the discovery of copy number variations (CNVs) in 38 normal horses of 16 diverse breeds, and the Przewalski horse.
Sharmila Ghosh +11 more
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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
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Copy Number Variation and Osteoporosis
Current Osteoporosis Reports, 2023 Abstract Purpose of Review The purpose of this review is to summarize recent findings on copy number variations and susceptibility to osteoporosis. Recent Findings Osteoporosis is highly influenced by genetic factors, including copy number variations (CNVs).
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Copy number variations among silkworms [PDF]
BMC Genomics, 2014 Abstract Background Copy number variations (CNVs), which are important source for genetic and phenotypic variation, have been shown to be associated with disease as well as important QTLs, especially in domesticated animals. However, little is known about the CNVs in silkworm. Results
Zhao, Qian +3 more
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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 M, McClellan
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Copy number variation in African Americans
BMC Genetics, 2009 Background Copy number variants (CNVs) have been identified in several studies to be associated with complex diseases. It is important, therefore, to understand the distribution of CNVs within and among populations.
Caillier Stacy J +3 more
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eLife, 2021 Copy number variation through gene or chromosome amplification provides a route for rapid phenotypic variation and supports the long-term evolution of gene functions.
DeElegant Robinson +4 more
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Copy Number Variation Disorders [PDF]
Current Genetic Medicine Reports, 2017 Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively ...
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Genetic association studies of copy-number variation: should assignment of copy number states precede testing? [PDF]
PLoS ONE, 2012 Recently, structural variation in the genome has been implicated in many complex diseases. Using genomewide single nucleotide polymorphism (SNP) arrays, researchers are able to investigate the impact not only of SNP variation, but also of copy-number ...
Patrick Breheny +4 more
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Copy Number Variation Analysis of Euploid Pregnancy Loss
Frontiers in Genetics, 2022 Objectives: Copy number variant (CNV) is believed to be the potential genetic cause of pregnancy loss. However, CNVs less than 3 Mb in euploid products of conceptions (POCs) remain largely unexplored. The aim of this study was to investigate the features
Chongjuan Gu +7 more
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