Founder variants and population genomes-Toward precision medicine

Area of Science:

• Genetics and Genomics
• Population Health
• Medical History

Background:

• Human migration and cultural practices lead to founder events, enriching disease-associated genetic variants in specific populations.
• Many founder events remain uncharacterized, despite advances in genomics.
• Genomic applications in clinical and population studies are accelerating the identification of founder variants.

Purpose of the Study:

• To provide an overview of founder variants, including methods and resources for their cataloging.
• To discuss the public health implications of founder variants.
• To present examples of prevalent disease-associated founder variants in specific populations.

Main Methods:

• Review of existing literature and databases on founder variants.
• Analysis of genomic data from population-scale studies.
• Case studies of prevalent founder variants and their associated diseases.

Main Results:

• Founder variants significantly contribute to the genetic architecture of diseases in various populations.
• Established methods and resources facilitate the identification and cataloging of founder variants.
• Prevalent founder variants have been identified in numerous populations, impacting genetic disease prevalence.

Conclusions:

• Characterizing founder variants is crucial for understanding disease genealogy and history.
• Identification of founder variants enables evidence-based policies, genetic testing, precise diagnosis, and prevention strategies.
• Understanding founder variants is essential for advancing precision medicine and public health initiatives.