Genetic Diversity and Mutation Frequency Databases in Ethnic Populations: Systematic Review

Area of Science:

• Genomics
• Bioinformatics
• Computational Biology

Background:

• National and ethnic mutation frequency databases (NEMDBs) are essential for gene variation research and precision medicine.
• They provide critical insights into genetic diversity across populations and its health implications.

Purpose of the Study:

• To systematically evaluate 42 NEMDBs for standardization gaps and data quality.
• To propose AI and linked open data solutions for enhanced interoperability.
• To highlight the clinical implications of NEMDBs for precision medicine.

Main Methods:

• A systematic assessment of 42 NEMDBs was conducted.
• Criteria included data collection, system design, querying, accessibility, and integration capabilities.
• Standardization and data quality challenges were specifically addressed.

Main Results:

• 70% of NEMDBs lack standardized formats, and 50% contain outdated data, limiting clinical utility.
• 60% exhibit gaps in cross-comparing genetic variations.
• Open-source platforms like LOVD showed a 40% increase in usability.

Conclusions:

• Cloud-based platforms and linked open data frameworks are proposed to address standardization and data gaps.
• AI-driven models can enhance interoperability among NEMDBs.
• User-centric design is prioritized to benefit clinicians, researchers, and the public.