- Multimodal genomic testing in prenatal diagnosis: incremental diagnostic contribution of chromosomal microarray and exome sequencing, real-world NIPT confirmation rates and pregnancy outcomes in 120 consecutive amniocenteses from northeastern Türkiye - a retrospective cohort study. [Journal Article]BMC Med Genomics. 2026 Sep 29; 19(1).BM
- CONCLUSIONS: CMA, ES and targeted testing added diagnoses in a non-uniformly applied pathway (complete first-tier panel in 78.3%). The findings reinforce the importance of diagnostic confirmation of high-risk NIPT results before irreversible clinical decisions, particularly for less common targets, which were frequently not confirmed in this referral series. Termination frequencies varied across diagnostic categories; these descriptive differences should be considered in the context of the underlying fetal phenotype, diagnostic certainty, and parental preferences when counselling is provided.
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- Development and pilot testing of a prostate cancer polygenic risk report. [Randomized Controlled Trial]
- CONCLUSIONS: In this qualitative pilot study, patient-facing materials for communicating prostate cancer PRS were generally well received, with specific design features such as simple visualizations and clear formatting enhancing understanding. Findings highlight the importance of intuitive risk displays and actionable guidance in PRS reporting. These results provide practical insights to inform the design of genomic risk reports as PRS-based prostate cancer screening approaches move toward clinical implementation.
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- Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome. [Case Reports]
- CONCLUSIONS: We report a Chinese family with Imagawa-Matsumoto syndrome harboring a SUZ12 frameshift variant (c.1244_1248del; p.Glu415GlyfsTer5). Our study expands the phenotypic spectrum associated with this variant and provides evidence consistent with impaired PRC2-mediated histone methylation.
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- A real-time PCR-based noninvasive prenatal RHD screening assay optimized for population-specific RHD allelic spectra in China. [Journal Article]
- CONCLUSIONS: This study presents a methodological framework for noninvasive prenatal RHD genotyping, specifically optimized for Chinese and other East Asian populations. Assay performance relies on distinct amplification patterns of population-specific RHD alleles across exons 5, 9, and 10. In addition, inclusion of exon 5 allows detection of RHD variants frequently observed in African populations, suggesting potential applicability across genetically diverse populations, pending further population-specific validation.
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- Benchmarking sequence-based and AlphaFold-based methods for pMHC-II binding core prediction: distinct strengths and consensus approaches. [Journal Article]
- CONCLUSIONS: This study highlights the complementary strengths of AlphaFold-based and sequence-based methods for predicting pMHC-II binding core regions. AlphaFold-based methods excel in predicting positive binders, while NetMHCIIpan is highly effective at identifying non-binders. Future research should focus on improving the prediction of unbound peptides for AlphaFold-based models. Since NetMHCIIpan's binding core predictive ability is already high, future efforts should concentrate on enhancing its binding prediction to further improve overall accuracy.
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- Efficient differential latent network analysis: applications to colon cancer. [Journal Article]
- CONCLUSIONS: EDLNA provides an efficient and scalable framework for identifying stage-specific gene interactions that bridge molecular mechanisms with clinical phenotypes. These findings underscore its potential for discovering novel biomarkers and advancing targeted therapies in colon cancer.
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- Breakpoint-level characterization of a novel CEP290 tandem duplication in trans with a pathogenic splice-site variant in a patient with Leber congenital amaurosis. [Journal Article]BMC Med Genomics. 2026 Jul 21. [Online ahead of print]BM
- CONCLUSIONS: To our knowledge, this study represents the first breakpoint-resolved characterization of a pathogenic CEP290 tandem duplication encompassing exons 31-53 identified in compound heterozygosity with a pathogenic splice-site variant in a patient with early-onset retinal degeneration. The duplication is predicted to disrupt the CEP290 coding sequence, resulting in a frameshift, premature termination codon, and loss of the C-terminal functional domain. These findings expand the spectrum of pathogenic structural variants in CEP290 and underscore the value of whole-genome sequencing and breakpoint-level analysis for resolving genetically unexplained inherited retinal disorders.
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- DR.DEGMON: self-explainable deep neural network for drug-induced cell viability prediction incorporating differentially expressed genes and gene ontology. [Journal Article]
- CONCLUSIONS: DR.DEGMON shows high performance in predicting drug responses and provides interpretable results. The integration of GO and LRP enabled the model to suggest the underlying biological processes involved in drug responses, making it a valuable tool for predicting outcomes and discovering new biomedical knowledge in cancer pharmacogenomics. This approach offers both practical utility in drug development and a method for improving the understanding of cancer biology.
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- The infero-apical left ventricular aneurysm and long QT syndrome caused by mutation delKKP 1504-1506 in SCN5A gene. [Journal Article]BMC Med Genomics. 2026 Jul 15. [Online ahead of print]BM
- CONCLUSIONS: This case suggests that the delKKP 1504-1506 mutation in SCN5A may not only lead to impaired impulse propagation in the conduction system and a prolonged QTc, but may also be associated with infero-apical ventricular aneurysms and J-wave syndromes, possibly corresponding to regional myocardial fibrosis.
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- Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis. [Journal Article]
- CONCLUSIONS: This study provides additional clinical and molecular data on TCF12-related craniosynostosis in a pediatric cohort from an Asian population. Our findings support haploinsufficiency as the central pathogenic mechanism, primarily driven by truncating variants affecting the C-terminal bHLH domain. The marked clinical heterogeneity, the presence of mild or evolving phenotypes, and incomplete penetrance observed in our cohort underscore the importance of early diagnosis and longitudinal clinical surveillance in affected families.
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- Gender-wise distribution of metabolic risk factors and their relationship with fibroblast growth factor 1 and gene polymorphism (rs152524). [Journal Article]BMC Med Genomics. 2026 Jul 14. [Online ahead of print]BM
- CONCLUSIONS: This hospital-based study identified a potential association between the FGF1 rs152524 AA genotype and obesity and hypertension. The AA genotype was present in 38% of participants, with risk rising per 'A' allele, while the G allele appeared protective. These preliminary findings require validation in larger, population-based cohorts before clinical relevance can be assessed.
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- Identification and growth features of developmental delay with macrocephaly caused by a novel TRIO variant affecting the second SH3 domain. [Case Reports]
- CONCLUSIONS: Our findings broaden the variant landscape of TRIO, establish a correlation between macrocephaly and TRIO variants within the second SH3 domain, provide the first detailed growth chart for a patient with TRIO-associated macrocephaly, and deepen our understanding of developmental impairments attributed to TRIO variants.
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- Integrated transcriptomic and metabolomic analysis identifies a core gene-metabolite network linking lysine degradation and propanoate metabolism to psoriasis pathogenesis. [Journal Article]
- CONCLUSIONS: In this exploratory pilot study, integrated transcriptomic and metabolomic profiling revealed preliminary associations between lysine degradation, propanoate metabolism, and psoriasis status. The observed crosstalk with central carbon metabolism, potentially involving TP53, MTOR, and AKT3, generates hypotheses that require validation in independent, larger cohorts before any clinical or mechanistic inferences can be drawn.
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- Whole exome sequencing uncovers genetic syndromes and putative candidate genes underlying orofacial clefts presenting with limb abnormalities in a Sub-Saharan African cohort. [Journal Article]
- CONCLUSIONS: While some cases can be attributed to single-gene syndromes (e.g., NIPBL-associated Cornelia de Lange Syndrome), others may result from multiple co-occurring syndromes. These findings may inform recurrence risk estimates, genetic counselling, and clinical management if validated across multiple populations.
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- Construction and validation of a lncRNA/circRNA-miRNA-mRNA ceRNA network in allergic rhinitis pathogenesis. [Journal Article]
- CONCLUSIONS: We established a ceRNA network based on lncRNA/circRNA-miRNA-mRNA interactions for AR, providing a solid foundation for future investigations into its underlying molecular mechanisms and the identification of novel drug targets.
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