Analysis of Germline Variants with Low Allele Frequencies in Turkish Healthy Cohort

ABSTRACT

Molecular causes of genetic disorders have been identified using genetic variants. Although many variants have been reported for specific genetic disorders, additional variants remain to be discovered. Rare variants are defined as deoxyribonucleic acid (DNA) alterations with minor allele frequencies (MAFs) of less than 0.01% in a specific population. To determine the pathogenicity of a variant, population databases are required. Although global databases such as gnomAD In the present study, we re-analyzed whole exome sequencing (WES) data from 80 healthy Turkish individuals with respect to rare variants. After filtering the variants according to MAF values (