Reanalysis solved cases missed years earlier: Yigit et al. (2026) annotated 120 diagnostically refractory families with Genomize-SEQ and companion tools, surfacing non-coding, structural, and mitochondrial variants previously reported as negative.
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PSMF1 joins the Parkinson’s gene list: Magrinelli et al. (2026) linked biallelic variants to a spectrum from early-onset parkinsonism to perinatal lethality, with Genomize-SEQ analysing exomes for one contributing Turkish family.
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“Reliable CNV interpretation runs three checks in order. Is the call real, is it rare, and what does it mean clinically. Each check draws on different evidence, scattered across separate tools. SEQ Platform runs all three: it calls each variant, adds an internal CNV database the public sources don’t cover, and applies ACMG/ClinGen classification, so…
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Mammadova et al. (2026) used Genomize-SEQ trio whole-exome analysis to identify a novel de novo ZMYM2 frameshift variant causing NECRC syndrome without the usual renal or cardiac anomalies, expanding the disorder’s spectrum to include predominant ADHD and motor stereotypies.
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Peker et al. (2026) used Genomize-SEQ trio exome analysis to detect a novel intronic AMPD2 variant in a Turkish toddler, enabling a confirmed diagnosis of pontocerebellar hypoplasia type 9 after follow-up functional studies proved the variant disrupts splicing.
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For four days at ESHG 2026 in Gothenburg, our team connected with laboratories, clinicians, and researchers working to advance genomic medicine. The event provided a valuable opportunity to demonstrate the latest capabilities of the SEQ Platform, discuss how laboratories are optimizing their diagnostic workflows, and explore new ways to support efficient and accurate clinical report…
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“We describe how PacBio HiFi long-read sequencing addresses specific blind spots, how we integrated HiFi-based analysis into the Genomize SEQ Platform, and how the resulting pipeline performs on the variant classes that account for most of the diagnostic gap.” Short-read sequencing has transformed clinical genomics, with decreasing costs and faster turnaround making genome and exome…
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ISV 2026 took place in Leuven this May, bringing together the genomics community for four days of scientific sessions, discussions, and knowledge sharing. Genomize attended as a sponsor, participating in the scientific program with a hands-on workshop and a satellite presentation, and meeting fellow researchers and clinicians at our booth throughout the conference. Here is…
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“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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