Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP).

The database of Genotypes and Phenotypes (dbGaP) contains various types of data generated from genome-wide association studies (GWAS). These data can be used to facilitate novel scientific discoveries and to reduce cost and time for exploratory research. However, idiosyncrasies and inconsistencies i...

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Autores principales: Ko-Wei Lin, Melissa Tharp, Mike Conway, Alexander Hsieh, Mindy Ross, Jihoon Kim, Hyeon-Eui Kim
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Publicado: Public Library of Science (PLoS) 2013
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Acceso en línea:https://doaj.org/article/bdd86b83d1864ebc816b6d88a5e47ae1
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spelling oai:doaj.org-article:bdd86b83d1864ebc816b6d88a5e47ae12021-11-18T08:54:37ZFeasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP).1932-620310.1371/journal.pone.0076384https://doaj.org/article/bdd86b83d1864ebc816b6d88a5e47ae12013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24058713/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203The database of Genotypes and Phenotypes (dbGaP) contains various types of data generated from genome-wide association studies (GWAS). These data can be used to facilitate novel scientific discoveries and to reduce cost and time for exploratory research. However, idiosyncrasies and inconsistencies in phenotype variable names are a major barrier to reusing these data. We addressed these challenges in standardizing phenotype variables by formalizing their descriptions using Clinical Element Models (CEM). Designed to represent clinical data, CEMs were highly expressive and thus were able to represent a majority (77.5%) of the 215 phenotype variable descriptions. However, their high expressivity also made it difficult to directly apply them to research data such as phenotype variables in dbGaP. Our study suggested that simplification of the template models makes it more straightforward to formally represent the key semantics of phenotype variables.Ko-Wei LinMelissa TharpMike ConwayAlexander HsiehMindy RossJihoon KimHyeon-Eui KimPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 9, p e76384 (2013)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Ko-Wei Lin
Melissa Tharp
Mike Conway
Alexander Hsieh
Mindy Ross
Jihoon Kim
Hyeon-Eui Kim
Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP).
description The database of Genotypes and Phenotypes (dbGaP) contains various types of data generated from genome-wide association studies (GWAS). These data can be used to facilitate novel scientific discoveries and to reduce cost and time for exploratory research. However, idiosyncrasies and inconsistencies in phenotype variable names are a major barrier to reusing these data. We addressed these challenges in standardizing phenotype variables by formalizing their descriptions using Clinical Element Models (CEM). Designed to represent clinical data, CEMs were highly expressive and thus were able to represent a majority (77.5%) of the 215 phenotype variable descriptions. However, their high expressivity also made it difficult to directly apply them to research data such as phenotype variables in dbGaP. Our study suggested that simplification of the template models makes it more straightforward to formally represent the key semantics of phenotype variables.
format article
author Ko-Wei Lin
Melissa Tharp
Mike Conway
Alexander Hsieh
Mindy Ross
Jihoon Kim
Hyeon-Eui Kim
author_facet Ko-Wei Lin
Melissa Tharp
Mike Conway
Alexander Hsieh
Mindy Ross
Jihoon Kim
Hyeon-Eui Kim
author_sort Ko-Wei Lin
title Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP).
title_short Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP).
title_full Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP).
title_fullStr Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP).
title_full_unstemmed Feasibility of using Clinical Element Models (CEM) to standardize phenotype variables in the database of genotypes and phenotypes (dbGaP).
title_sort feasibility of using clinical element models (cem) to standardize phenotype variables in the database of genotypes and phenotypes (dbgap).
publisher Public Library of Science (PLoS)
publishDate 2013
url https://doaj.org/article/bdd86b83d1864ebc816b6d88a5e47ae1
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