Understanding local population genetics improves variant interpretation in rare genetic disorders
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Exome sequencing in underrepresented populations reveals unique variant spectra that improve interpretation of rare genetic disorders. We introduce IRExom, a registry of over 3,000 exomes from Iranian patients enriched for rare diseases, providing population-specific frequencies and constraint metrics. Comparison with gnomAD highlights thousands of variants absent globally but frequent locally, resolving uncertain variants and uncovering founder effects, advancing equitable genomic medicine.
