Discover SEQ’s Automated Variant Classification Tool, which incorporates ACMG’s Standards and Guidelines, and learn how the additional VUS+ and VUS++ classifications can improve variant interpretation and prioritization.
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Türkdoğan et al. (2019) identified a pathogenic SCN4A myotonia mutation through Genomize-SEQ whole-exome variant analysis in an infant with epileptic seizures and apneas, proposing the mutation caused laryngospasm as a potential contributing mechanism for SUDEP
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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.
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Forouhideh et al. (2019) confirmed MYORG as the first known recessive gene for primary familial brain calcification (Fahr’s syndrome) in a consanguineous Turkish family, providing the first case reported outside China with detailed phenotyping.
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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.
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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.
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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.
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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.
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