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POSTRE: a tool to predict the pathological effects of human structural variantsPOSTRE: a tool to predict the pathological effects of human structural variantsVíctor Sánchez-Gaya, Alvaro Rada-Iglesias2023-03-30T22:00:00Z<h3>​Abstract</h3><div><br></div><div><br></div><div>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 and long-range enhancer-gene communication. However, there is still a clear gap between the need to predict and interpret the medical impact of non-coding variants, and the existence of tools to properly perform these tasks. To reduce this gap, we have developed POSTRE (Prediction Of STRuctural variant Effects), a computational tool to predict the pathogenicity of SVs implicated in a broad range of human congenital disorders. By considering disease-relevant cellular contexts, POSTRE identifies SVs with either coding or long-range pathological consequences with high specificity and sensitivity. Furthermore, POSTRE not only identifies pathogenic SVs, but also predicts the disease-causative genes and the underlying pathological mechanism (e.g, gene deletion, enhancer disconnection, enhancer adoption, etc.). POSTRE is available at <a href="https://github.com/vicsanga/Postre">https://github.com/vicsanga/Postre</a>.​<br></div><p><a href="https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkad225/7097664">​Nucleic Acids Res. 2023 Mar 31;gkad225.</a>​</p><div><br></div><p><br></p>422
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