The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016

Hangül et al. (2019) applied Genomize-SEQ for CFTR variant analysis across 119,006 newborns in central Anatolia, establishing a CF incidence of 1 in 3,400 live births, the first Turkish estimate from national newborn screening.

Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

Özdemir et al. (2019) used Genomize-SEQ to analyze MMR gene variants in 79 endometrial cancer patients under 50, confirming Lynch syndrome in 5% of cases and identifying three novel pathogenic mutations for the first time in Turkey.