Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease.

Jessica K DennisJulia M SealockPeter StraubYounga H LeeDonald HucksKy'Era ActkinsAnnika FauconYen-Chen Anne FengTian GeSlavina B GolevaMaria NiarchouKritika SinghTheodore MorleyJordan W SmollerDouglas M RuderferJonathan D MosleyGuanhua ChenLea K Davis

Published in: Genome medicine (2021)

Polygenic risk scores can be used to identify biomarkers of complex disease in large-scale EHR-based genomic analyses, providing new avenues for discovery of novel biomarkers and deeper understanding of disease trajectories in pre-symptomatic individuals. We present two methods and associated software, QualityLab and LabWAS, to clean and analyze EHR labs at scale and perform a Lab-Wide Association Scan.

Keyphrases

computed tomography
electronic health record
small molecule
depressive symptoms
magnetic resonance imaging
genome wide
gene expression