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- W2800968671 endingPage "467" @default.
- W2800968671 startingPage "453" @default.
- W2800968671 abstract "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. Recent studies have shown that SVs can not only affect gene dosage but also modulate basic mechanisms of gene regulation. SVs can alter the copy number of regulatory elements or modify the 3D genome by disrupting higher-order chromatin organization such as topologically associating domains. As a result of these position effects, SVs can influence the expression of genes distant from the SV breakpoints, thereby causing disease. The impact of SVs on the 3D genome and on gene expression regulation has to be considered when interpreting the pathogenic potential of these variant types." @default.
- W2800968671 created "2018-05-17" @default.
- W2800968671 creator A5023743496 @default.
- W2800968671 creator A5039968138 @default.
- W2800968671 creator A5049446559 @default.
- W2800968671 date "2018-04-24" @default.
- W2800968671 modified "2023-10-10" @default.
- W2800968671 title "Structural variation in the 3D genome" @default.
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