Article

Automated prediction of the clinical impact of structural copy number variations

2020-07-31

Abstract excerpt

<h4>Introduction: </h4> Copy number variants (CNVs) play an important role in many biological processes, including the development of genetic diseases, making them attractive targets for genetic analyses. The interpretation of the effect of structural variants is a challenging problem due to highly variable numbers of gene, regulatory or other genomic elements affected by the CNV. This led to the demand for the in...

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Literature Corpus work: 4c4b22b1-dc46-51ca-90bb-efe50336b0ae
DOI: 10.1101/2020.07.30.228601

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