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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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Genome structural variation in human evolution
Trends in Genetics, 2022Structural variation (SV) is a large difference (typically >100 bp) in the genomic structure of two genomes and includes both copy number variation and variation that does not change copy number of a genomic region, such as an inversion. Improved reference genomes, combined with widespread genome sequencing using short-read sequencing technology, and ...
Edward J. Hollox +2 more
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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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Genome-wide analysis of structural variation
Nature Methods, 2021Phased genomes from diverse human populations are assembled using multiple sequencing technologies.
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Structural Genomic Variation and Personalized Medicine
New England Journal of Medicine, 2008Large-scale genomic deletions, duplications, and inversions represent a major source of variation among persons; thus, new approaches to probing disease susceptibility are warranted.
Lee, Charles +1 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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Facilitating genome structural variation analysis
Nature Methods, 2023Although structural variation is less explored than single-nucleotide variation, recent studies have shown it to be associated with several human diseases. Three fresh computational methods might help to elucidate this inadequately understood part of our genetic makeup.
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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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Representing genomic structural variation [PDF]
Nature Methods, 2012 Cydney Nielsen, Bang Wong
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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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