Unknown

Dataset Information

0

Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes.


ABSTRACT: Phenome-Wide Association Studies (PheWAS) comprehensively investigate the association between genetic variation and a wide array of outcome traits. Electronic health record (EHR) based PheWAS uses various abstractions of International Classification of Diseases, Ninth Revision (ICD-9) codes to identify case/control status for diagnoses that are used as the phenotypic variables. However, there have not been comparisons within a PheWAS between results from high quality derived phenotypes and high-throughput but potentially inaccurate use of ICD-9 codes for case/control definition. For this study we first developed a group of high quality algorithms for five phenotypes. Next we evaluated the association of these "gold standard" phenotypes and 4,636,178 genetic variants with minor allele frequency > 0.01 and compared the results from high-throughput associations at the 3 digit, 5 digit, and PheWAS codes for defining case/control status. We found that certain diseases contained similar patient populations across phenotyping methods but had differences in PheWAS.

SUBMITTER: Leader JB 

PROVIDER: S-EPMC4765620 | BioStudies | 2015-01-01

REPOSITORIES: biostudies

Similar Datasets

2019-01-01 | S-EPMC6798574 | BioStudies
1000-01-01 | S-EPMC4133579 | BioStudies
2018-01-01 | S-EPMC5985339 | BioStudies
2016-01-01 | S-EPMC4989894 | BioStudies
2016-01-01 | S-EPMC4718547 | BioStudies
2013-01-01 | S-EPMC3873228 | BioStudies
2012-01-01 | S-EPMC3476448 | BioStudies
2017-01-01 | S-EPMC5501393 | BioStudies
2013-01-01 | S-EPMC3637423 | BioStudies
2014-01-01 | S-EPMC4235428 | BioStudies