Targeted DNA sequencing and in situ mutation analysis using mobile phone microscopy (2017)

By M. Kühnemund, Q. Wei, E. Darai, Y. Wang, I. Hernandez-Neuta, Z. Yang, D. Tseng, A, Ahlford, L. Mathot, T. Sjöblom, A. Ozcan, and M. Nilsson (2017)

Molecular diagnostics is typically outsourced to well-equipped centralized laboratories, often far from the patient. We developed molecular assays and portable optical imaging designs that permit on-site diagnostics with a cost-effective mobile-phone-based multimodal microscope. We demonstrate that targeted next-generation DNA sequencing reactions and in situ point mutation detection assays in preserved tumour samples can be imaged and analysed using mobile phone microscopy, achieving a new milestone for tele-medicine technologies.