Phenotype ontologies and cross-species analysis for translational research.

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 m...

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Autores principales:	Peter N Robinson, Caleb Webber
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Genetics QH426-470
Acceso en línea:	https://doaj.org/article/28178537cd08427aad553267a39e2b8d
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id	oai:doaj.org-article:28178537cd08427aad553267a39e2b8d
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spelling	oai:doaj.org-article:28178537cd08427aad553267a39e2b8d2021-11-18T06:20:57ZPhenotype ontologies and cross-species analysis for translational research.1553-73901553-740410.1371/journal.pgen.1004268https://doaj.org/article/28178537cd08427aad553267a39e2b8d2014-04-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24699242/?tool=EBIhttps://doaj.org/toc/1553-7390https://doaj.org/toc/1553-7404The 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.Peter N RobinsonCaleb WebberPublic Library of Science (PLoS)articleGeneticsQH426-470ENPLoS Genetics, Vol 10, Iss 4, p e1004268 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Genetics QH426-470
spellingShingle	Genetics QH426-470 Peter N Robinson Caleb Webber Phenotype ontologies and cross-species analysis for translational research.
description	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.
format	article
author	Peter N Robinson Caleb Webber
author_facet	Peter N Robinson Caleb Webber
author_sort	Peter N Robinson
title	Phenotype ontologies and cross-species analysis for translational research.
title_short	Phenotype ontologies and cross-species analysis for translational research.
title_full	Phenotype ontologies and cross-species analysis for translational research.
title_fullStr	Phenotype ontologies and cross-species analysis for translational research.
title_full_unstemmed	Phenotype ontologies and cross-species analysis for translational research.
title_sort	phenotype ontologies and cross-species analysis for translational research.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/28178537cd08427aad553267a39e2b8d
work_keys_str_mv	AT peternrobinson phenotypeontologiesandcrossspeciesanalysisfortranslationalresearch AT calebwebber phenotypeontologiesandcrossspeciesanalysisfortranslationalresearch
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Phenotype ontologies and cross-species analysis for translational research.

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