Oğuzhan KALYON

Research

My research focuses on applying bioinformatics and genome sequencing technologies to understand the genetic basis of human disease. I am particularly interested in structural variation, rare genetic disorders, and the development of computational approaches for genomic diagnostics. My work combines large-scale genomic data analysis, clinical genomics, and emerging artificial intelligence methods to improve variant detection and interpretation.

Selected publications

• Demirbaga, Ü., Aujla, G. S., Jindal, A., & Kalyon, O. (2024). Big Data Analytics. Springer Nature Switzerland. https://doi.org/10.1007/978-3-031-55639-5
   
• Flanagan, S. E., Lazaridi, I.-A., Männistö, J. M. E., Bennett, J. J., Kalyon, O., Johnson, M. B., Wakeling, M. N., Houghton, J. A. L., & Laver, T. W. (2025). Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing. Frontiers in Endocrinology, 16. https://doi.org/10.3389/fendo.2025.1514916
   
• Dicke, A.-K., Ahmedani, A., Ma, L., Herrmann, L., van der Heijden, G. W., Koser, S. A., Krallmann, C., Kalyon, O., Xavier, M. J., Veltman, J. A., Kliesch, S., Neuhaus, N., Kotaja, N., Tüttelmann, F., & Stallmeyer, B. (2025). NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-61463-0
   
• Laver, T. W., Sriram, A., Wakeling, M. N., Şiklar, Z., Kobaisi, F., Kalyon, O., Hattersley, A. T., Weedon, M. N., Flanagan, S. E., De Franco, E., Colclough, K., & Patel, K. A. (2026). Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY. Diabetologia. https://doi.org/10.1007/s00125-026-06685-7
   
• Bennett, J. J., Laver, T. W., Männistö, J. M. E., Houghton, J. A. L., De Franco, E., Kalyon, O., Wright, S., Johnson, A.-M., De Leon, D. D., Globa, E., Kummer, S., Banerjee, I., Dastamani, A., Akçay, T., Alhomaidah, D. S., Bhavani, N., Miranda Cabrera, B. F., Demir, K., Fadiana, G., … Flanagan, S. E. (2026). Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA. eBioMedicine, 128, 106308. https://doi.org/10.1016/j.ebiom.2026.106308