Gene

Biology

1000 Genomes Project

Imputation (statistics)

Runs of Homozygosity

Computer science

Environmental health

Evolutionary biology

Single-nucleotide polymorphism

Genetics

Exome sequencing

Missing data

Genome

Genome-wide association study

Genotype

Exome

Population

Haplotype

Medicine

Allele

Inbreeding

Genetic variation

Machine learning

Phenotype

Proceedings of the National Academy of Sciences

Significance We delineated the fine-scale genetic structure of the Turkish population by using sequencing data of 3,362 unrelated Turkish individuals from different geographical origins and demonstrated the position of Turkey in terms of human migration and genetic drift. The results show that the genetic structure of present-day Anatolia was shaped by historical and modern-day migrations, high levels of admixture, and inbreeding. We observed that modern-day Turkey has close genetic relationships with the neighboring Balkan and Caucasus populations. We generated a Turkish Variome which defines the extent of variation observed in Turkey, listed homozygous loss-of-function variants and clinically relevant variants in the cohort, and generated an imputation panel for future genome-wide association studies.

The genetic structure of the Turkish population reveals high levels of variation and admixture