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Spotlight on the Artifacts in Next-Generation Sequencing in PGT-A: Reason for High Mosaicism Reporting. [PDF]
JBRA Assist ReprodSingh N +4 more
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Role of DNA copy number variation in dyslipidemias
Current Opinion in Lipidology, 2018Purpose of review DNA copy number variations (CNVs) are quantitative structural rearrangements that include deletions, duplications, and higher order amplifications. Because of technical limitations, the contribution of this common form of genetic variation to regulation of lipid metabolism and dyslipidemia has been ...
Michael A, Iacocca, Robert A, Hegele
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The Role of DNA Copy Number Variation in Schizophrenia
Biological Psychiatry, 2009Schizophrenia is a major psychiatric disease with strong evidence of genetic risk factors. Recent studies based on genome-wide study of copy number variations (CNVs) have detected novel recurrent submicroscopic copy number changes, including recurrent deletions at 1q21.11, 15q11.3, 15q13.3, and the recurrent CNV at the 2p16.3 neurexin 1 locus.
Gloria W C, Tam +3 more
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Recurrent DNA copy number variation in the laboratory mouse
Nature Genetics, 2007Different species, populations and individuals vary considerably in the copy number of discrete segments of their genomes. The manner and frequency with which these genetic differences arise over generational time is not well understood. Taking advantage of divergence among lineages sharing a recent common ancestry, we have conducted a genome-wide ...
Chris M, Egan +3 more
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Mitochondrial DNA Copy Number Variations in Gastrointestinal Tract Cancers: Potential Players
Journal of Gastrointestinal Cancer, 2021Alterations of mitochondria have been linked to several cancers. Also, the mitochondrial DNA copy number (mtDNA-CN) is altered in various cancers, including gastrointestinal tract (GIT) cancers, and several research groups have investigated its potential as a cancer biomarker. However, the exact causes of mtDNA-CN variations are not yet revealed.
Alikhani, Mehdi +4 more
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Variations in Mitochondrial DNA Copy Numbers in MS Brains
Journal of Molecular Neuroscience, 2008The aim of this study is to determine if there is a pathology-related variation in mitochondrial (mt)DNA copy numbers in brains of patients with multiple sclerosis (MS). Our recent study demonstrated an age-dependent but excluded a MS pathology-related increase in the proportion of cytochrome oxidase (COX)-negative cells and deleted mtDNA molecules in ...
Andrei, Blokhin +3 more
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DNA Copy Number Variations in Patients with Persistent Cloaca
Journal of Urology, 2014Persistent cloaca is a devastating female anomaly associated with renal insufficiency/failure, urinary and fecal incontinence and müllerian dysfunction. Genetically engineered murine models of persistent cloaca suggest that this anomaly could have a genetic component in humans.
Steven M, Harrison +2 more
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Predictive value of recurrent DNA copy number variations
2008 IEEE International Workshop on Genomic Signal Processing and Statistics, 2008Recurrent copy number variations across multiple samples are increasingly used to identify the genes and the genomic locations that are statistically and biologically significant and correlated with certain diseases. In this paper, we evaluate the predictive power of copy number variations for detecting autism.
Abdullah K. Algallaf +3 more
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Local DNA sequence determinants of FUT2 copy number variation
Transfusion, 2011pas de ...
Chen, Jian-Min +2 more
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