Multiome-wide Association Studies: Novel Approaches for Understanding Diseases

Area of Science:

• Genetics and Genomics
• Computational Biology
• Biostatistics

Background:

• Multiome-wide association study (MWAS) methods are rapidly advancing, enabling deeper insights into complex disease genetics.
• Understanding the genetic basis of complex diseases requires robust tools for analyzing diverse biological data.

Purpose of the Study:

• To provide a comprehensive review and categorization of MWAS statistical models, use cases, and advantages.
• To analyze gene-disease associations, particularly using transcriptome-wide association study (TWAS), and identify research trends.

Main Methods:

• Systematic review and categorization of recent MWAS statistical models.
• Literature search and data collection of gene-disease association studies, focusing on TWAS.
• Analysis of 478 disease entries from 235 publications to identify frequently studied disease categories.

Main Results:

• Detailed summary of statistical approaches, applications, and benefits of various MWAS.
• Identification of mental disorders as the most common focus in TWAS research.
• Demonstration of TWAS utility in exploring the genetic architecture of complex diseases.

Conclusions:

• MWAS are crucial for elucidating the genetic underpinnings of complex diseases.
• Selecting appropriate MWAS methods is vital for successful gene-disease association studies.
• TWAS shows significant potential for advancing our understanding of mental disorder genetics.