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

ABSTRACT: 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 i

SUBMITTER: Sanchez-Gaya V 

PROVIDER: S-EPMC10201441 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature