
Faculty, Staff and Student Publications
Publication Date
2-14-2024
Journal
Genetics in Medicine Open
Abstract
PURPOSE: The variome of the Turkish (TK) population, a population with a considerable history of admixture and consanguinity, has not been deeply investigated for insights on the genomic architecture of disease.
METHODS: We generated and analyzed a database of variants derived from exome sequencing data of 773 TK unrelated, clinically affected individuals with various suspected Mendelian disease traits and 643 unaffected relatives.
RESULTS: Using uniform manifold approximation and projection, we showed that the TK genomes are more similar to those of Europeans and consist of 2 main subpopulations: clusters 1 and 2 (
CONCLUSION: Our findings support the notion that novel rare variants on newly configured haplotypes arising within the recent past generations of a family or clan contribute significantly to recessive disease traits in the TK population.
Keywords
Admixture, Consanguinity, Genomic architecture of rare disease traits, Runs of homozygosity, Turkish population
DOI
10.1016/j.gimo.2024.101830
PMID
39669594
PMCID
PMC11613692
PubMedCentral® Posted Date
February 2024
PubMedCentral® Full Text Version
Post-print
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