PhenPath: a tool for characterizing biological functions underlying different phenotypes.

ABSTRACT:

Background

Many diseases are associated with complex patterns of symptoms and phenotypic manifestations. Parsimonious explanations aim at reconciling the multiplicity of phenotypic traits with the perturbation of one or few biological functions. For this, it is necessary to characterize human phenotypes at the molecular and functional levels, by exploiting gene annotations and known relations among genes, diseases and phenotypes. This characterization makes it possible to implement tools for retrieving functions shared among phenotypes, co-occurring in the same patient and facilitating the formulation of hypotheses about the molecular causes of the disease.

Results

We introduce PhenPath, a new resource consisting of two parts: PhenPathDB and PhenPathTOOL. The former is a dat

SUBMITTER: Babbi G 

PROVIDER: S-EPMC6631446 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature