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.
Through Genomize-SEQ-powered NGS, Gumus (2018) mapped MEFV mutation frequencies in Sanliurfa following Syrian migration, finding broadly similar mutation spectra in Turkish and Syrian FMF patients and discovering a novel exon 4 variant (I423T) previously undetectable by standard methods.
Erbilgin et al. (2026) used Genomize-SEQ to confirm IKZF1 deletions were nearly twice as common in relapsed pediatric B-ALL patients as at diagnosis, suggesting these deletions accumulate during disease progression rather than predicting relapse from the outset.
Using targeted NGS and Genomize-SEQ variant analysis, Firtina et al. (2017) found an identical novel CD3E frameshift deletion in two unrelated consanguineous Turkish families with T-B+ NK+ SCID. This finding suggests a possible founder effect and expands the known mutational spectrum of CD3E-deficiency.
