Estamos realizando la búsqueda. Por favor, espere...

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 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 https://github.com/vicsanga/Postre.

 Autoría: Sánchez-Gaya V., Rada-Iglesias A.,

 Fuente: Nucleic Acids Research, 2023, 51(9), e54

 Editorial: Oxford University Press

 Año de publicación: 2023

 Nº de páginas: 27

 Tipo de publicación: Artículo de Revista

 DOI: 10.1093/nar/gkad225

 ISSN: 0305-1048,1362-4962