Neuroimaging PheWAS (Phenome-Wide Association Study): A Free Cloud-Computing Platform for Big-Data, Brain-Wide...

Area of Science:

• Biomedical Data Science
• Neuroimaging Genetics
• Computational Biology

Background:

• Genome-wide association studies (GWASs) identify genetic variations linked to neurological and psychiatric disorders.
• Neuroimaging and genomic data advances enable studying gene effects on brain structure and function.
• Analyzing large-scale imaging and genomic data requires advanced biomedical data science tools.

Purpose of the Study:

• Introduce Neuroimaging PheWAS, a web-based system for phenome-wide association studies (PheWAS) on neuroimaging data.
• Facilitate discovery of system-level gene-brain relationships through a unified genotype-to-phenotype strategy.
• Provide a user-friendly platform for managing data, defining studies, and visualizing results.

Main Methods:

• Developed a web-based system with a graphical user interface (GUI) for data uploading and study management.
• Utilized a cloud-based computational infrastructure for data processing and analysis.
• Implemented statistical association analysis and multiple comparison correction methods.
• Demonstrated system utility with a case study on the apolipoprotein E (APOE) gene in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort.
• Evaluated system performance using UK Biobank data.

Main Results:

• The Neuroimaging PheWAS system simplifies the execution of PheWAS on neuroimaging data.
• The system enables the discovery of gene-brain relationships across diverse brain imaging phenotypes.
• Case study demonstrated the influence of APOE on brain morphology.
• Benchmark tests confirmed system performance and scalability.

Conclusions:

• Neuroimaging PheWAS offers a powerful, accessible tool for imaging genetics research.
• The system aids in elucidating the impact of genetic variants on brain structure and function.
• Facilitates understanding of genetic mechanisms underlying neurological and psychiatric disorders.