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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: Methods and Clinical Applications
Applied Sciences, 2021 Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases.
Ondrej Pös +8 more
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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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Copy Number Variation in Inflammatory Breast Cancer
Cells, 2023 Identification of a unique genomic biomarker in de novo inflammatory breast cancer (IBC) may provide an insight into the biology of this aggressive disease. The goal of our study was to elucidate biomarkers associated with IBC.
Aditi Hazra +7 more
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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 +6 more
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Copy number variation in schizophrenia in Sweden [PDF]
Molecular Psychiatry, 2014 Schizophrenia is a highly heritable neuropsychiatric disorder of complex genetic etiology. Previous genome-wide surveys have revealed a greater burden of large, rare CNVs in schizophrenia cases and identified multiple rare recurrent CNVs that increase risk of schizophrenia although with incomplete penetrance and pleiotropic effects.
J P, Szatkiewicz +24 more
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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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