Reproducible disease phenotyping at scale: Example of coronary artery disease in UK Biobank.

ABSTRACT:

Importance

A lack of internationally agreed standards for combining available data sources at scale risks inconsistent disease phenotyping limiting research reproducibility.

Objective

To develop and then evaluate if a rules-based algorithm can identify coronary artery disease (CAD) sub-phenotypes using electronic health records (EHR) and questionnaire data from UK Biobank (UKB).

Design

Case-control and cohort study.

Setting

Prospective cohort study of 502K individuals aged 40-69 years recruited between 2006-2010 into the UK Biobank with linked hospitalization and mortality data and genotyping.

Participants

We included all individuals for phenotyping into 6 predefined CAD phenotypes using hospital admission and procedure codes, mortality records and basel

SUBMITTER: Patel RS 

PROVIDER: S-EPMC8982857 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature