MFMD

MFMD catalogs founder mutations prevalent in the Mediterranean population to support genetic research and clinical diagnostics.

Key Features:

• Data Compilation: Systematically compiles mutation information from literature sources and other online databases to create a curated catalogue of Mediterranean founder mutations.
• Mutation Details: Provides per-mutation annotations including DNA change, amino-acid alteration, mutation type, biological effect, mutation frequency, and coalescence time when available.
• Gene-Disease Associations: Catalogues 383 founder mutations across 210 genes associated with 219 diseases.

Scientific Applications:

• Genetic Diagnosis: Enables development of more rapid and cost-effective genetic diagnostic tests targeted to the Mediterranean population by providing population-specific mutation data.
• Research on Genetic Diversity: Supports study of genetic diversity across Mediterranean populations and analysis of how historical migrations shaped regional genomic landscapes.
• Migration History Insights: Facilitates inference of migration patterns and settlement history through analysis of coalescence times of founder mutations.

Methodology:

Systematic compilation from literature and online databases with annotation of DNA changes, amino-acid alterations, mutation types, biological effects, mutation frequencies, and coalescence times.