Results 11 to 20 of about 272,726 (306)
Copy number variation in the bovine genome [PDF]
BMC Genomics, 2010 Background Copy number variations (CNVs), which represent a significant source of genetic diversity in mammals, have been shown to be associated with phenotypes of clinical relevance and to be causative of disease.
Bendixen Christian +3 more
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Copy number variation across European populations. [PDF]
PLoS ONE, 2011 Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide ...
Wanting Chen +10 more
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Evolutionary impact of copy number variation rates [PDF]
BMC Research Notes, 2017 Objective Copy number variation is now recognized as one of the major sources of genetic variation among individuals in natural populations of any species.
Guillermo Rodrigo
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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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An association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry [PDF]
, 2022 Human facial morphology is a combination of many complex traits and is determined by a large number of genes and enhancers. Here, we report a Copy Number Variation (CNV) study of enhancer hs1431 in populations of Central European and South Siberian ...
Miroslava V. Derenko +3 more
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