Impact of Measurement Imprecision on Genetic Association Studies of Cardiac Function.

ABSTRACT:

Background

Recent studies have leveraged quantitative traits from imaging to amplify the power of genome-wide association studies (GWAS) to gain further insights into the biology of diseases and traits. However, measurement imprecision is intrinsic to phenotyping and can impact downstream genetic analyses.

Methods

Left ventricular ejection fraction (LVEF), an important but imprecise quantitative imaging measurement, was examined to assess the impact of precision of phenotype measurement on genetic studies. Multiple approaches to obtain LVEF, as well as simulated measurement noise, were evaluated with their impact on downstream genetic analyses.

Results

Even within the same population, small changes in the measurement of LVEF drastically impacted downstream genetic ana

SUBMITTER: Vukadinovic M 

PROVIDER: S-EPMC9949184 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature