The impact of the Turkish population variome on the genomic architecture of rare disease traits.

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 (N = 235 and 1181, respectively), which differ in admixture proportion and variome (https://turkishvariomedb.shinyapps.io/tvdb/). Furthermore, the highe

SUBMITTER: Coban-Akdemir Z 

PROVIDER: S-EPMC11613692 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature