Using mechanistic models for the clinical interpretation of complex genomic variation.

ABSTRACT: The sustained generation of genomic data in the last decade has increased the knowledge on the causal mutations of a large number of diseases, especially for highly penetrant Mendelian diseases, typically caused by a unique or a few genes. However, the discovery of causal genes in complex diseases has been far less successful. Many complex diseases are actually a consequence of the failure of complex biological modules, composed by interrelated proteins, which can happen in many different ways, which conferring a multigenic nature to the condition that can hardly be attributed to one or a few genes. We present a mechanistic model, Hipathia, implemented in a web server that allows estimating the effect that mutations, or changes in the expression of genes, have over the whole system of huma

SUBMITTER: Pena-Chilet M 

PROVIDER: S-EPMC6908734 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature