Pathogenic variation underlying rare diseases in an Arab Population: implications for screening programs

Abstract excerpt

<title>Abstract</title> <p>Background Genetic variation underlying rare diseases in Arab populations is poorly understood, limiting effective carrier screening for recessive disorders which are prevalent due to high consanguineous rates. Methods Using the ACMG/AMP guidelines, we curated pathogenic and likely pathogenic variants in 1,333 Arab Emirati families (346 internal cohort and 987 from the literature). We...

Topics

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• Arabs
• Biological Specimen Banks
• Databases, Genetic
• Diabetes Mellitus, Type 2
• Gene Frequency
• Homozygote
• Infant, Newborn
• Phenotype

Identifiers and source

Literature Corpus work

a6229647-1a4a-57d5-9ae2-27cfd0975050

DOI

10.21203/rs.3.rs-5377628/v1