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Machine Learning Data Imputation and Classification in a Multicohort Hypertension Clinical Study
William Seffens1, Chad Evans1,
1Physiology Department, Morehouse School of Medicine, Atlanta, GA, USA.
Insights
Machine learning improved hypertension research by imputing missing data in African American participants. This enhanced dataset revealed new associations between traits and hypertension risk.
Area of Science:
- Genomics
- Translational Research
- Medical Informatics
Background:
- Healthcare initiatives promote clinical data use for medical discovery.
- Machine learning (ML) aids in detecting patterns in complex diseases like hypertension.
- Previous genomic studies in African Americans (AA) focused on rare variants for hypertension, yielding limited results.
Purpose of the Study:
- To apply ML for analyzing phenotype data in African American (AA) participants within the Minority Health Genomics and Translational Research Repository Database.
- To impute missing phenotype data using neural networks to expand the usable clinical dataset.
- To validate the expanded dataset's utility for identifying associations between phenotype variables and hypertension case/control status.
Main Methods:
- Utilized neural networks for phenotype data imputation to address missing values.
- Expanded the clinical dataset size through data imputation.
- Employed data mining classification tools to generate association rules.
Main Results:
- The expanded dataset, created by ML imputation, demonstrated improved performance in associating phenotype variables with hypertension status.
- Association rules were successfully generated using data mining techniques.
- The study highlights the effectiveness of ML in uncovering complex relationships in genomic and clinical data.
Conclusions:
- Machine learning imputation is effective for increasing the usability of clinical datasets for hypertension research in African American populations.
- This approach can uncover novel associations between phenotype and genotype data, advancing translational research.
- The findings support the use of advanced statistical methods for complex disease research in diverse populations.
Abstract:
Health-care initiatives are pushing the development and utilization of clinical data for medical discovery and translational research studies. Machine learning tools implemented for Big Data have been applied to detect patterns in complex diseases. This study focuses on hypertension and examines phenotype data across a major clinical study called Minority Health Genomics and Translational Research Repository Database composed of self-reported African American (AA) participants combined with related cohorts. Prior genome-wide association studies for hypertension in AAs presumed that an increase of disease burden in susceptible populations is due to rare variants. But genomic analysis of hypertension, even those designed to focus on rare variants, has yielded marginal genome-wide results over many studies. Machine learning and other nonparametric statistical methods have recently been shown to uncover relationships in complex phenotypes, genotypes, and clinical data. We trained neural networks with phenotype data for missing-data imputation to increase the usable size of a clinical data set. Validity was established by showing performance effects using the expanded data set for the association of phenotype variables with case/control status of patients. Data mining classification tools were used to generate association rules.
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