The Unified Phenotype Ontology : a framework for cross-species integrative phenomics.

ABSTRACT: Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a century, vast quantities of phenotype data have been collected in many different contexts covering a variety of organisms. The emerging field of phenomics focuses on integrating and interpreting these data to inform biological hypotheses. A major impediment in phenomics is the wide range of distinct and disconnected approaches to recording the observable characteristics of an organism. Phenotype data are collected and curated using free text, single terms or combinations of terms, using multiple vocabularies, terminologies, or ontologies. Integrating these heterogeneous and often

SUBMITTER: Matentzoglu N 

PROVIDER: S-EPMC11912833 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature