Systematic analysis of experimental phenotype data reveals gene functions.

High-throughput phenotyping projects in model organisms have the potential to improve our understanding of gene functions and their role in living organisms. We have developed a computational, knowledge-based approach to automatically infer gene functions from phenotypic manifestations and applied t...

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Autores principales: Robert Hoehndorf, Nigel W Hardy, David Osumi-Sutherland, Susan Tweedie, Paul N Schofield, Georgios V Gkoutos
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Publicado: Public Library of Science (PLoS) 2013
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Acceso en línea:https://doaj.org/article/c41b97e356b34816ba134d75b2563a48
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spelling oai:doaj.org-article:c41b97e356b34816ba134d75b2563a482021-11-18T07:49:11ZSystematic analysis of experimental phenotype data reveals gene functions.1932-620310.1371/journal.pone.0060847https://doaj.org/article/c41b97e356b34816ba134d75b2563a482013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23626672/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203High-throughput phenotyping projects in model organisms have the potential to improve our understanding of gene functions and their role in living organisms. We have developed a computational, knowledge-based approach to automatically infer gene functions from phenotypic manifestations and applied this approach to yeast (Saccharomyces cerevisiae), nematode worm (Caenorhabditis elegans), zebrafish (Danio rerio), fruitfly (Drosophila melanogaster) and mouse (Mus musculus) phenotypes. Our approach is based on the assumption that, if a mutation in a gene [Formula: see text] leads to a phenotypic abnormality in a process [Formula: see text], then [Formula: see text] must have been involved in [Formula: see text], either directly or indirectly. We systematically analyze recorded phenotypes in animal models using the formal definitions created for phenotype ontologies. We evaluate the validity of the inferred functions manually and by demonstrating a significant improvement in predicting genetic interactions and protein-protein interactions based on functional similarity. Our knowledge-based approach is generally applicable to phenotypes recorded in model organism databases, including phenotypes from large-scale, high throughput community projects whose primary mode of dissemination is direct publication on-line rather than in the literature.Robert HoehndorfNigel W HardyDavid Osumi-SutherlandSusan TweediePaul N SchofieldGeorgios V GkoutosPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 4, p e60847 (2013)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Robert Hoehndorf
Nigel W Hardy
David Osumi-Sutherland
Susan Tweedie
Paul N Schofield
Georgios V Gkoutos
Systematic analysis of experimental phenotype data reveals gene functions.
description High-throughput phenotyping projects in model organisms have the potential to improve our understanding of gene functions and their role in living organisms. We have developed a computational, knowledge-based approach to automatically infer gene functions from phenotypic manifestations and applied this approach to yeast (Saccharomyces cerevisiae), nematode worm (Caenorhabditis elegans), zebrafish (Danio rerio), fruitfly (Drosophila melanogaster) and mouse (Mus musculus) phenotypes. Our approach is based on the assumption that, if a mutation in a gene [Formula: see text] leads to a phenotypic abnormality in a process [Formula: see text], then [Formula: see text] must have been involved in [Formula: see text], either directly or indirectly. We systematically analyze recorded phenotypes in animal models using the formal definitions created for phenotype ontologies. We evaluate the validity of the inferred functions manually and by demonstrating a significant improvement in predicting genetic interactions and protein-protein interactions based on functional similarity. Our knowledge-based approach is generally applicable to phenotypes recorded in model organism databases, including phenotypes from large-scale, high throughput community projects whose primary mode of dissemination is direct publication on-line rather than in the literature.
format article
author Robert Hoehndorf
Nigel W Hardy
David Osumi-Sutherland
Susan Tweedie
Paul N Schofield
Georgios V Gkoutos
author_facet Robert Hoehndorf
Nigel W Hardy
David Osumi-Sutherland
Susan Tweedie
Paul N Schofield
Georgios V Gkoutos
author_sort Robert Hoehndorf
title Systematic analysis of experimental phenotype data reveals gene functions.
title_short Systematic analysis of experimental phenotype data reveals gene functions.
title_full Systematic analysis of experimental phenotype data reveals gene functions.
title_fullStr Systematic analysis of experimental phenotype data reveals gene functions.
title_full_unstemmed Systematic analysis of experimental phenotype data reveals gene functions.
title_sort systematic analysis of experimental phenotype data reveals gene functions.
publisher Public Library of Science (PLoS)
publishDate 2013
url https://doaj.org/article/c41b97e356b34816ba134d75b2563a48
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AT davidosumisutherland systematicanalysisofexperimentalphenotypedatarevealsgenefunctions
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