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

Malte Kühnemund, Qingshan Wei, Evangelia Darai, Yingjie Wang, Iván Hernández-Neuta, Zhao Yang, Derek Tseng, Annika Ahlford, Lucy Mathot, Tobias Sjöblom, Aydogan Ozcan () and Mats Nilsson ()
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Malte Kühnemund: Science for Life Laboratory, genetics and pathology, Uppsala University
Qingshan Wei: University of California, Los Angeles
Evangelia Darai: Science for Life Laboratory, Stockholm University, Sweden
Yingjie Wang: University of California, Los Angeles
Iván Hernández-Neuta: Science for Life Laboratory, Stockholm University, Sweden
Zhao Yang: University of California, Los Angeles
Derek Tseng: University of California, Los Angeles
Annika Ahlford: Science for Life Laboratory, Stockholm University, Sweden
Lucy Mathot: Science for Life Laboratory, genetics and pathology, Uppsala University
Tobias Sjöblom: Science for Life Laboratory, genetics and pathology, Uppsala University
Aydogan Ozcan: University of California, Los Angeles
Mats Nilsson: Science for Life Laboratory, genetics and pathology, Uppsala University

Nature Communications, 2017, vol. 8, issue 1, 1-8

Abstract: Abstract 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.

Date: 2017
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DOI: 10.1038/ncomms13913

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