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Side effects of genome structural changes

机译:基因组结构变化的副作用

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The first extensive catalog of structural human variation was recently released. It showed that large stretches of genomic DNA that vary considerably in copy number were extremely abundant. Thus it is conceivable that they play a major role in functional variation. Consistently, genomic insertions and deletions were shown to contribute to phenotypic differences by modifying not only the expression levels of genes within the aneuploid segments but also of normal copy-number neighboring genes. In this report, we review the possible mechanisms behind this latter effect.
机译:最近发布了人类结构变异的第一个广泛目录。结果表明,拷贝数差异很大的大片段基因组DNA非常丰富。因此可以想象它们在功能变化中起主要作用。一致地,基因组插入和缺失显示出不仅通过修饰非整倍体区段内基因的表达水平,而且还修饰了正常拷贝数邻近基因的表型差异。在本报告中,我们回顾了后一种效应背后的可能机制。

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