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Genome structural variation discovery and genotyping [PDF]
Nature Reviews Genetics, 2011 Comparisons of human genomes show that more base pairs are altered as a result of structural variation - including copy number variation - than as a result of point mutations. Here we review advances and challenges in the discovery and genotyping of structural variation.
Can, Alkan +2 more
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Structural variation in the 3D genome [PDF]
Nature Reviews Genetics, 2018 Structural and quantitative chromosomal rearrangements, collectively referred to as structural variation (SV), contribute to a large extent to the genetic diversity of the human genome and thus are of high relevance for cancer genetics, rare diseases and evolutionary genetics.
Malte Spielmann +2 more
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The role of genomic structural variation in the genetic improvement of polyploid crops
Crop Journal, 2019 Many of our major crop species are polyploids, containing more than one genome or set of chromosomes. Polyploid crops present unique challenges, including difficulties in genome assembly, in discriminating between multiple gene and sequence copies, and ...
Sarah-Veronica Schiessl +4 more
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Indels, structural variation, and recombination drive genomic diversity inPlasmodium falciparum [PDF]
, 2016 The malaria parasite Plasmodium falciparum has a great capacity for evolutionary adaptation to evade host immunity and develop drug resistance. Current understanding of parasite evolution is impeded by the fact that a large fraction of the genome is ...
Campino, Susana +21 more
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Understanding genome structural variations
Oncotarget, 2015 Genome structural variations (SVs) in the human genome are defined as DNA sequence polymorphisms of at least a few dozen or few hundred bases in length and include deletions, duplications, inversions, translocation, retroelement insertions, and more complex rearrangements that could be thought of as consisting of multiple fragments from the just listed
Abyzov, Alexej +2 more
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Germline Structural Variations in Cancer Predisposition Genes
Frontiers in Genetics, 2021 In addition to single nucleotide variations and small-scale indels, structural variations (SVs) also contribute to the genetic diversity of the genome. SVs, such as deletions, duplications, amplifications, or inversions may also affect coding regions of ...
Tímea Pócza +12 more
doaj +1 more source
Structural variation in the chicken genome identified by paired-end next-generation DNA sequencing of reduced representation libraries [PDF]
, 2011 Background Variation within individual genomes ranges from single nucleotide polymorphisms (SNPs) to kilobase, and even megabase, sized structural variants (SVs), such as deletions, insertions, inversions, and more complex rearrangements.
Kerstens, H.H.D. +5 more
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Contemplating effects of genomic structural variation [PDF]
Genetics in Medicine, 2008 Two developments have sparked new directions in the genetics-to-genomics transition for research and medical applications: the advance of whole-genome assays by array or DNA sequencing technologies, and the discovery among human genomes of extensive submicroscopic genomic structural variation, including copy number variation. For health care to benefit
Janet A, Buchanan, Stephen W, Scherer
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Structural Genomic Variation as Risk Factor for Idiopathic Recurrent Miscarriage [PDF]
, 2014 Peer ...
Christiansen, Ole B. +9 more
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Structural genomic variation in ischemic stroke [PDF]
Neurogenetics, 2008 Technological advances in molecular genetics allow rapid and sensitive identification of genomic copy number variants (CNVs). This, in turn, has sparked interest in the function such variation may play in disease. While a role for copy number mutations as a cause of Mendelian disorders is well established, it is unclear whether CNVs may affect risk for
Mar, Matarin +17 more
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