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; Mats Nilsson

doi:10.1038/ncomms13913

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

Nat Commun. 2017 Jan 17:8:13913. doi: 10.1038/ncomms13913.

Authors

Malte Kühnemund^{1

2}, Qingshan Wei^{3

4

5}, Evangelia Darai², Yingjie Wang³, Iván Hernández-Neuta², Zhao Yang³, Derek Tseng³, Annika Ahlford^{2

6}, Lucy Mathot¹, Tobias Sjöblom¹, Aydogan Ozcan^{3

4

5}, Mats Nilsson^{1

2}

Affiliations

¹ Science for Life Laboratory, Department of Immunology, genetics and pathology, Uppsala University, Box 815, 751 08 Uppsala, Sweden.
² Science for Life Laboratory, Department of Biophysics and biochemistry, Stockholm University, Sweden, Box 1031, Se-171 21 Solna, Sweden.
³ Electrical Engineering Department, University of California, Los Angeles, Los Angeles, California 90095, USA.
⁴ Bioengineering Department, University of California, Los Angeles, Los Angeles, California 90095, USA.
⁵ California NanoSystems Institute (CNSI), University of California, Los Angeles, Los Angeles, California 90095, USA.
⁶ Devyser AB, Instrumentvägen 19, 126 53 Stockholm, Sweden.

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.

Publication types

Evaluation Study
Research Support, Non-U.S. Gov't

MeSH terms

Cell Phone / statistics & numerical data*
DNA / genetics*
Humans
Microscopy
Mutation
Neoplasms / diagnosis*
Neoplasms / genetics
Pathology, Molecular / instrumentation
Pathology, Molecular / methods*
Proto-Oncogene Proteins p21(ras) / genetics
Sequence Analysis, DNA / instrumentation
Sequence Analysis, DNA / methods*

Substances

KRAS protein, human
DNA
Proto-Oncogene Proteins p21(ras)