“While short-read sequencing has provided the foundation for modern genetics, its inherent blind spots in repetitive and structural regions present a clear ceiling in a first-line diagnostic setting. Long-read sequencing represents a necessary evolution beyond second-line testing, providing a more comprehensive, phased, and epigenetically aware view of the human genome. The maturation of interpretation platforms…
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Bozkurt Kekilli et al. (2026) used Genomize-SEQ to analyze whole exome sequencing data from 12 patients with unexplained liver disease, identifying the genetic cause in one-third of cases. This shows that broad genomic testing can uncover rare inherited conditions missed by standard clinical tests.
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Paksoy et al. (2026) used multigene panel testing in 647 BRCA1/2-negative Turkish patients, with Genomize-SEQ supporting variant analysis. They identified clinically relevant non-BRCA variants in 16.2% of cases, led by CHEK2, ATM, and TP53.
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Yavas et al. (2026) used Genomize-SEQ to annotate and filter whole-exome sequencing data from a 7-year-old girl with unexplained cognitive impairment and microcephaly, identifying a novel homozygous ATP9A variant that structurally destabilizes the protein and underlies her neurodevelopmental disorder.
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Kose and Akalin (2026) used Genomize-SEQ to analyze NGS data from 52 pediatric IEI patients in a highly consanguineous Turkish population, establishing a molecular diagnosis in 63% of cases and directly influencing clinical management in 82% of diagnosed patients.
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Kayhan et al. (2026) identified pathogenic variants in 24% of 75 Turkish children presenting with ASD through Genomize-SEQ whole-exome analysis. This revealed underlying genetic diagnoses including Rett, Dravet, and Angelman syndrome in patients who had previously tested negative on standard screens.
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Genomize-SEQ CNV analysis in Durmaz et al. (2026) detected a TMC6 deletion that prompted optical genome mapping, revealing the first complex TMC6/TMC8 structural rearrangement in hereditary EV and four novel pathogenic variants across five Turkish families.
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Tarhan et al. (2026) used Genomize-SEQ to identify two KIF1C variants in 3 siblings with spastic ataxia, determining a splice-site mutation as the cause of hereditary spastic paraplegia, with cerebellar symptoms preceding pyramidal signs.
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Through Genomize-SEQ whole-exome variant analysis, Bolat et al. (2026) identified the 13th genetically confirmed Keipert syndrome case with a novel GPC4 missense variant, demonstrating that epilepsy without intellectual disability can accompany the condition.
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“Our collaboration with Genomize brings together Oxford Nanopore’s information- rich, rapid, and accessible molecular sensing platform with a powerful, clinically compliant analysis solution,” said Gordon Sanghera, CEO of Oxford Nanopore Technologies. “By optimising the processing of long-read data, we are enabling laboratories to translate complex genomic information into actionable insights with greater speed and confidence.”…
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