Article

Understanding local population genetics improves variant interpretation in rare genetic disorders

2025-09-30

Abstract excerpt

<title>Abstract</title> <p>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...

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Literature Corpus work: 1b76a866-3f30-5b7b-9d04-1b6abc58e1d3
DOI: 10.21203/rs.3.rs-7448520/v1

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