Improving the classification of cardinality phenotypes using collections.

ABSTRACT:

Motivation

Phenotypes are observable characteristics of an organism and they can be highly variable. Information about phenotypes is collected in a clinical context to characterize disease, and is also collected in model organisms and stored in model organism databases where they are used to understand gene functions. Phenotype data is also used in computational data analysis and machine learning methods to provide novel insights into disease mechanisms and support personalized diagnosis of disease. For mammalian organisms and in a clinical context, ontologies such as the Human Phenotype Ontology and the Mammalian Phenotype Ontology are widely used to formally and precisely describe phenotypes. We specifically analyze axioms pertaining to phenotypes of collections of entities withi

SUBMITTER: Alghamdi SM 

PROVIDER: S-EPMC10405428 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature