Article

POSTRE: a tool to predict the pathological effects of human structural variants

2022-06-22

Abstract excerpt

Understanding the pathological impact of non-coding genetic variation is a major challenge in medical genetics. Accumulating evidences indicate that a significant fraction of genetic alterations, including structural variants (SVs), can cause human disease by altering the function of non-coding regulatory elements, such as enhancers. In the case of SVs, described pathomechanisms include changes in enhancer dosage...

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Literature Corpus work: 0c478caf-befc-5389-b65c-f8a9a27b9b10
DOI: 10.1101/2022.06.20.496902

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