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PhenClust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the Unified Medical Language System metathesaurus

OBJECTIVES: We sought to cluster biological phenotypes using semantic similarity and create an easy-to-install, stable, and reproducible tool. MATERIALS AND METHODS: We generated Phenotype Clustering (PhenClust)—a novel application of semantic similarity for interpreting biological phenotype associa...

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Detalles Bibliográficos
Autores principales: Wilson, Jennifer L, Wong, Mike, Stepanov, Nicholas, Petkovic, Dragutin, Altman, Russ
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8442701/
https://www.ncbi.nlm.nih.gov/pubmed/34541463
http://dx.doi.org/10.1093/jamiaopen/ooab079
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author Wilson, Jennifer L
Wong, Mike
Stepanov, Nicholas
Petkovic, Dragutin
Altman, Russ
author_facet Wilson, Jennifer L
Wong, Mike
Stepanov, Nicholas
Petkovic, Dragutin
Altman, Russ
author_sort Wilson, Jennifer L
collection PubMed
description OBJECTIVES: We sought to cluster biological phenotypes using semantic similarity and create an easy-to-install, stable, and reproducible tool. MATERIALS AND METHODS: We generated Phenotype Clustering (PhenClust)—a novel application of semantic similarity for interpreting biological phenotype associations—using the Unified Medical Language System (UMLS) metathesaurus, demonstrated the tool’s application, and developed Docker containers with stable installations of two UMLS versions. RESULTS: PhenClust identified disease clusters for drug network-associated phenotypes and a meta-analysis of drug target candidates. The Dockerized containers eliminated the requirement that the user install the UMLS metathesaurus. DISCUSSION: Clustering phenotypes summarized all phenotypes associated with a drug network and two drug candidates. Docker containers can support dissemination and reproducibility of tools that are otherwise limited due to insufficient software support. CONCLUSION: PhenClust can improve interpretation of high-throughput biological analyses where many phenotypes are associated with a query and the Dockerized PhenClust achieved our objective of decreasing installation complexity.
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spelling pubmed-84427012021-09-16 PhenClust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the Unified Medical Language System metathesaurus Wilson, Jennifer L Wong, Mike Stepanov, Nicholas Petkovic, Dragutin Altman, Russ JAMIA Open Application Notes OBJECTIVES: We sought to cluster biological phenotypes using semantic similarity and create an easy-to-install, stable, and reproducible tool. MATERIALS AND METHODS: We generated Phenotype Clustering (PhenClust)—a novel application of semantic similarity for interpreting biological phenotype associations—using the Unified Medical Language System (UMLS) metathesaurus, demonstrated the tool’s application, and developed Docker containers with stable installations of two UMLS versions. RESULTS: PhenClust identified disease clusters for drug network-associated phenotypes and a meta-analysis of drug target candidates. The Dockerized containers eliminated the requirement that the user install the UMLS metathesaurus. DISCUSSION: Clustering phenotypes summarized all phenotypes associated with a drug network and two drug candidates. Docker containers can support dissemination and reproducibility of tools that are otherwise limited due to insufficient software support. CONCLUSION: PhenClust can improve interpretation of high-throughput biological analyses where many phenotypes are associated with a query and the Dockerized PhenClust achieved our objective of decreasing installation complexity. Oxford University Press 2021-09-15 /pmc/articles/PMC8442701/ /pubmed/34541463 http://dx.doi.org/10.1093/jamiaopen/ooab079 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of the American Medical Informatics Association. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Application Notes
Wilson, Jennifer L
Wong, Mike
Stepanov, Nicholas
Petkovic, Dragutin
Altman, Russ
PhenClust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the Unified Medical Language System metathesaurus
title PhenClust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the Unified Medical Language System metathesaurus
title_full PhenClust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the Unified Medical Language System metathesaurus
title_fullStr PhenClust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the Unified Medical Language System metathesaurus
title_full_unstemmed PhenClust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the Unified Medical Language System metathesaurus
title_short PhenClust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the Unified Medical Language System metathesaurus
title_sort phenclust, a standalone tool for identifying trends within sets of biological phenotypes using semantic similarity and the unified medical language system metathesaurus
topic Application Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8442701/
https://www.ncbi.nlm.nih.gov/pubmed/34541463
http://dx.doi.org/10.1093/jamiaopen/ooab079
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