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نتائج ل
"Phenotypes"
صنف حسب:
pyPheWAS: A Phenome-Disease Association Tool for Electronic Medical Record Analysis
بواسطة
Bermudez, Camilo
,
Chaganti, Shikha
,
Lasko, Thomas
في
Associations
,
Bioinformatics
,
Biomedical and Life Sciences
2022
Along with the increasing availability of electronic medical record (EMR) data, phenome-wide association studies (PheWAS) and phenome-disease association studies (PheDAS) have become a prominent, first-line method of analysis for uncovering the secrets of EMR
.
Despite this recent growth, there is a lack of approachable software tools for conducting these analyses on large-scale EMR cohorts. In this article, we introduce
pyPheWAS
, an open-source python package for conducting PheDAS and related analyses. This toolkit includes 1) data preparation, such as cohort censoring and age-matching; 2) traditional PheDAS analysis of ICD-9 and ICD-10 billing codes; 3) PheDAS analysis applied to a novel EMR phenotype mapping: current procedural terminology (CPT) codes; and 4) novelty analysis of significant disease-phenotype associations found through PheDAS. The pyPheWAS toolkit is approachable and comprehensive, encapsulating data prep through result visualization all within a simple command-line interface. The toolkit is designed for the ever-growing scale of available EMR data, with the ability to analyze cohorts of 100,000 + patients in less than 2 h. Through a case study of Down Syndrome and other intellectual developmental disabilities, we demonstrate the ability of pyPheWAS to discover both known and potentially novel disease-phenotype associations across different experiment designs and disease groups. The software and user documentation are available in open source at
https://github.com/MASILab/pyPheWAS
.
Journal Article
Publisher Correction: A novel therapeutic antibody screening method using bacterial high-content imaging reveals functional antibody binding phenotypes of Escherichia coli ST131
2021
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Journal Article
Author Correction: Spotted phenotypes in horses lost attractiveness in the Middle Ages
2020
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Journal Article
Correction: Two stable variants of Burkholderia pseudomallei strain MSHR5848 express broadly divergent in vitro phenotypes associated with their virulence differences
2019
[This corrects the article DOI: 10.1371/journal.pone.0171363.].
Journal Article