The similarity of inherited diseases (II): clinical and biological similarity between the phenotypic series.

ABSTRACT:

Background

Despite being caused by mutations in different genes, diseases in the same phenotypic series are clinically similar, as reported in Part I of this study. Here, in Part II, we hypothesized that the phenotypic series too might be clinically similar. Furthermore, on the assumption that gene mutations indirectly cause clinical phenotypes by directly affecting biological functions, we hypothesized that clinically similar phenotypic series might be biologically similar as well.

Methods

To test these hypotheses, we generated a clinical similarity network and a set of biological similarity networks. In both types of network, the nodes represent the phenotypic series, and the edges linking the nodes indicate the similarity of the linked phenotypic series. The weight of eac

SUBMITTER: Gamba A 

PROVIDER: S-EPMC7513283 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature