Article

CADD-SV – a framework to score the effects of structural variants in health and disease

2021-07-12

Abstract excerpt

While technological advances improved the identification of structural variants (SVs) in the human genome, their interpretation remains challenging. Several methods utilize individual mechanistic principles like the deletion of coding sequence or 3D genome architecture disruptions. However, a comprehensive tool using the broad spectrum of available annotations is missing. Here, we describe CADD-SV, a method to ret...

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Literature Corpus work: e3162be2-eee1-5e46-af62-233463dd13cb
DOI: 10.1101/2021.07.10.451798

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