Prevalence of Rare Variants Associated with Monogenic Diseases in Pre-contact Caribbean Communities

نویسندگان

چکیده

Genomic technologies in archaeology have been used to study migration patterns, origin of and genetic similarity between ancient populations. Researchers are, however, just beginning employ these evaluate the genomic health communities. In this we screen publicly available whole-genome sequencing data pre-contact Caribbean individuals for presence pathogenic mutations causing monogenic diseases. Our results show that communities from Ceramic Age (3100–400 BP) had an unusually high frequency variants associated with three conditions, Classical Phenylketonuria, Hypohidrotic Ectodermal Dysplasia LRRK2-Related Parkinson’s disease. The estimated analyzed samples is severalfold higher than contemporary Three conditions classified today as rare diseases thus might much prevalence past. Studying history will expand list larger

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ژورنال

عنوان ژورنال: Dokladi na B?lgarskata akademiâ na naukite

سال: 2023

ISSN: ['2367-5535', '1310-1331']

DOI: https://doi.org/10.7546/crabs.2023.04.04