Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Phenotype ontologies and cross-species analysis for translational research

Robinson, Peter N. and Webber, Caleb 2014. Phenotype ontologies and cross-species analysis for translational research. PLoS Genetics 10 (4) , e1004268. 10.1371/journal.pgen.1004268

[img] PDF - Published Version
Available under License Creative Commons Attribution.

Download (659kB)

Abstract

The use of model organisms as tools for the investigation of human genetic variation has significantly and rapidly advanced our understanding of the aetiologies underlying hereditary traits. However, while equivalences in the DNA sequence of two species may be readily inferred through evolutionary models, the identification of equivalence in the phenotypic consequences resulting from comparable genetic variation is far from straightforward, limiting the value of the modelling paradigm. In this review, we provide an overview of the emerging statistical and computational approaches to objectively identify phenotypic equivalence between human and model organisms with examples from the vertebrate models, mouse and zebrafish. Firstly, we discuss enrichment approaches, which deem the most frequent phenotype among the orthologues of a set of genes associated with a common human phenotype as the orthologous phenotype, or phenolog, in the model species. Secondly, we introduce and discuss computational reasoning approaches to identify phenotypic equivalences made possible through the development of intra- and interspecies ontologies. Finally, we consider the particular challenges involved in modelling neuropsychiatric disorders, which illustrate many of the remaining difficulties in developing comprehensive and unequivocal interspecies phenotype mappings.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Public Library of Science
ISSN: 1553-7390
Date of First Compliant Deposit: 23 October 2020
Last Modified: 23 Oct 2020 14:30
URI: http://orca-mwe.cf.ac.uk/id/eprint/135793

Actions (repository staff only)

Edit Item Edit Item

Downloads

Downloads per month over past year

View more statistics