Results 11 to 20 of about 12,100,252 (298)
Copy number variations of five Y chromosome genes in donkeys [PDF]
Archives Animal Breeding, 2017 In mammals, the Y chromosome plays a pivotal role in male sex determination and is essential for normal sperm production. A number of studies were conducted on Y chromosome genes of various species and identified single-copy and multi-copy genes ...
H. Han +5 more
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Copy Number Variations in Neuropsychiatric Disorders
International Journal of Molecular Sciences, 2023 Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved.
Gergely Büki +2 more
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Eight Y chromosome genes show copy number variations in horses [PDF]
Archives Animal Breeding, 2018 Copy number variations (CNVs), which represent a significant source of genetic diversity on the Y chromosome in mammals, have been shown to be associated with the development of many complex phenotypes, such as reproduction and male fertility.
H. Han +6 more
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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region. [PDF]
PLoS ONE, 2022 The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection ...
Lydia Sagath +4 more
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Copy Number Variations and Schizophrenia
Molecular Neurobiology, 2022 Abstract Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to the development of schizophrenia is a subject of extensive research activity, as reliable data regarding its aetiology would enable the improvement of its therapy and the development of new methods ...
Kamila Szecówka +4 more
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Copy number variation and neuropsychiatric illness [PDF]
Current Opinion in Genetics & Development, 2021 Copy number variants (CNVs) at specific loci have been identified as important risk factors for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder, intellectual disability (ID) and depression. These CNVs are individually rare (
Rees, Elliott, Kirov, George
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Copy Number Variation in Domestication [PDF]
Trends in Plant Science, 2019 Domesticated plants have long served as excellent models for studying evolution. Many genes and mutations underlying important domestication traits have been identified, and most causal mutations appear to be SNPs. Copy number variation (CNV) is an important source of genetic variation that has been largely neglected in studies of domestication ...
Zoe N, Lye, Michael D, Purugganan
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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 variations and cancer [PDF]
Genome Medicine, 2009 DNA copy number variations (CNVs) are an important component of genetic variation, affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The advent of high-resolution SNP arrays has made it possible to identify CNVs. Characterization of widespread constitutional (germline) CNVs has provided insight into their role in ...
Shlien, Adam, Malkin, David
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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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