Commentary on Shimoyama et al. (2012): three ontologies to define phenotype measurement data.

John M Hancock

doi:10.3389/fgene.2014.00093

Abstract

Commentary on Shimoyama et al. (2012): three ontologies to define phenotype measurement data.

Highlights

As human genomics moves into a massscale era, whereby millions of genome sequences will soon become available, new opportunities are opening up to use these very large samples better to understand the relationship between genotype and phenotype
Significant progress has been made in using ontologies to describe human and model organism phenotypes in recent years
The Mammalian Phenotype ontology (MP) (Smith and Eppig, 2012) was developed in association with the Mouse Genome Database (Blake et al, 2014) to facilitate consistent annotation of phenotypes associated with genomic differences

Summary

Introduction

As human genomics moves into a massscale era, whereby millions of genome sequences will soon become available, new opportunities are opening up to use these very large samples better to understand the relationship between genotype and phenotype. Model organisms are frequently used to study disease-, and more broadly phenotype-related phenomena in systems with applicability to humans but which are not subject to equivalent ethical problems or issues of data protection. A key requirement for future computational analysis of the relationship between genotype and phenotype in human will be to include knowledge from model organisms (Hancock et al, 2009).

Results

Conclusion