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Structural Variation of the Human Genome
Annual Review of Genomics and Human Genetics, 2006There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes.
Andrew J, Sharp +2 more
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Genomic structural variation and schizophrenia
Current Psychiatry Reports, 2008It has recently been demonstrated that a large amount of structural variation exists in the human genome. Since 2004, when two landmark studies reported polymorphic levels of copy number variation in phenotypically normal individuals, our understanding of genome-wide levels of copy number variation has grown.
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Structural Genomic Variation in Intellectual Disability
2011The genetic causes of mental retardation are highly heterogeneous and for a large proportion unknown. Mutations as well as large chromosomal abnormalities are known to contribute to mental retardation, and recently more subtle structural genomic variations have been shown to contribute significantly to this common and complex disorder.
Pfundt, R., Veltman, J.A.
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Structural variation in the human genome
Nature Reviews Genetics, 2006The first wave of information from the analysis of the human genome revealed SNPs to be the main source of genetic and phenotypic human variation. However, the advent of genome-scanning technologies has now uncovered an unexpectedly large extent of what we term 'structural variation' in the human genome.
Lars, Feuk +2 more
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Genomic structural variation in psychiatric disorders
Development and Psychopathology, 2012AbstractCopy number variants (CNVs) are submicroscopic deletions and duplications of genomic material that were previously thought to be rare phenomena. They have now been robustly associated with a variety of disorders such as autism, schizophrenia, and attention-deficit/hyperactivity disorder through an emerging research base in affective disorders ...
Rucker, James, McGuffin, Peter
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Structural Variation in the Human Genome
New England Journal of Medicine, 2007The human genome has many large expansions and contractions. These affect gene dosage and may affect susceptibility to disease.
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Structural variations in Vicia faba mitochondrial genome
Theoretical and Applied Genetics, 1988A comparative analysis of the presence of minicircular DNA CCCIB in 16 different lines and cultivars of fertile Vicia faba L. plants was conducted. It was found that copy number of CCCIB ranged from several copies per mitochondrial genome to - probably - zero, depending on cultivar or line. Fertility of plants in these cases was not altered.
V I, Negruk, N K, Kaushik
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Structural variation: the genome's hidden architecture
Nature Methods, 2012Next-generation sequencing is uncovering more variants than ever before, but it also faces limitations.
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Fosmid Libraries for Genomic Structural Variation Detection
Current Protocols in Human Genetics, 2007AbstractFosmid libraries have demonstrated their utility for a number of applications. These include filling gaps between BACs and small insert libraries in sequence assemblies, performing hybridization/screening studies to isolate functional elements within the genome (Vergin et al., 1998), and detecting insertions, deletions, and rearrangements in ...
William F, Donahue, Heather M, Ebling
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Genome Structure, Organization, and Variation
2017This chapter covers the structure of the genome and the variation in genome organization found in different species, which are both the outcome of, and the ingredients for, natural selection. It discusses the structure of chromosomes, extrachromosomal DNA, changes in the genome, and integration of genomic findings with evolutionary and genetic ...
Philip Meneely +4 more
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