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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 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.
Susanne Akterin +24 more
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Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]
, 2012 The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous ...
Lange, Kenneth +2 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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The population genetics of adaptation through copy-number variation in a fungal plant pathogen
bioRxiv, 2021 Microbial pathogens can rapidly adapt to changing environments such as the application of pesticides or host resistance. Copy number variations (CNV) are a major source of adaptive genetic variation for recent adaptation.
Luzia Stalder +3 more
semanticscholar +1 more source
Including copy number variation in association studies to predict genotypic values [PDF]
, 2010 The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L. +2 more
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Copy number variation across European populations.
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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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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Rare copy number variation in cerebral palsy [PDF]
, 2013 As per publisher: published online 22 May 2013Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known.
A MacLennan +59 more
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