title: Targeted DNA sequencing and in situ mutation analysis using mobile phone microscopy.
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.
authors.affiliation: Science for Life Laboratory, Department of Immunology, genetics and pathology, Uppsala University, Box 815, 751 08 Uppsala, Sweden.|Science for Life Laboratory, Department of Biophysics and biochemistry, Stockholm University, Sweden, Box 1031, Se-171 21 Solna, Sweden.
authors.forename: Malte
authors.initials: M
authors.lastname: Kühnemund
authors.affiliation: Electrical Engineering Department, University of California, Los Angeles, Los Angeles, California 90095, USA.|Bioengineering Department, University of California, Los Angeles, Los Angeles, California 90095, USA.|California NanoSystems Institute (CNSI), University of California, Los Angeles, Los Angeles, California 90095, USA.
authors.forename: Qingshan
authors.initials: Q
authors.lastname: Wei
authors.affiliation: Science for Life Laboratory, Department of Biophysics and biochemistry, Stockholm University, Sweden, Box 1031, Se-171 21 Solna, Sweden.
authors.forename: Evangelia
authors.initials: E
authors.lastname: Darai
authors.affiliation: Electrical Engineering Department, University of California, Los Angeles, Los Angeles, California 90095, USA.
authors.forename: Yingjie
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Science for Life Laboratory, Department of Biophysics and biochemistry, Stockholm University, Sweden, Box 1031, Se-171 21 Solna, Sweden.
authors.forename: Iván
authors.initials: I
authors.lastname: Hernández-Neuta
authors.affiliation: Electrical Engineering Department, University of California, Los Angeles, Los Angeles, California 90095, USA.
authors.forename: Zhao
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Electrical Engineering Department, University of California, Los Angeles, Los Angeles, California 90095, USA.
authors.forename: Derek
authors.initials: D
authors.lastname: Tseng
authors.affiliation: Science for Life Laboratory, Department of Biophysics and biochemistry, Stockholm University, Sweden, Box 1031, Se-171 21 Solna, Sweden.|Devyser AB, Instrumentvägen 19, 126 53 Stockholm, Sweden.
authors.forename: Annika
authors.initials: A
authors.lastname: Ahlford
authors.affiliation: Science for Life Laboratory, Department of Immunology, genetics and pathology, Uppsala University, Box 815, 751 08 Uppsala, Sweden.
authors.forename: Lucy
authors.initials: L
authors.lastname: Mathot
authors.affiliation: Science for Life Laboratory, Department of Immunology, genetics and pathology, Uppsala University, Box 815, 751 08 Uppsala, Sweden.
authors.forename: Tobias
authors.initials: T
authors.lastname: Sjöblom
authors.affiliation: Electrical Engineering Department, University of California, Los Angeles, Los Angeles, California 90095, USA.|Bioengineering Department, University of California, Los Angeles, Los Angeles, California 90095, USA.|California NanoSystems Institute (CNSI), University of California, Los Angeles, Los Angeles, California 90095, USA.
authors.forename: Aydogan
authors.initials: A
authors.lastname: Ozcan
authors.affiliation: Science for Life Laboratory, Department of Immunology, genetics and pathology, Uppsala University, Box 815, 751 08 Uppsala, Sweden.|Science for Life Laboratory, Department of Biophysics and biochemistry, Stockholm University, Sweden, Box 1031, Se-171 21 Solna, Sweden.
authors.forename: Mats
authors.initials: M
authors.lastname: Nilsson
mesh_terms: D040421:Cell Phone / Q000706:statistics & numerical data*; D004247:DNA / Q000235:genetics*; D006801:Humans; D008853:Microscopy; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics; D057089:Pathology, Molecular / Q000295:instrumentation / Q000379:methods*; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000295:instrumentation / Q000379:methods*
chemical_list: C117307:KRAS protein, human; D004247:DNA; D016283:Proto-Oncogene Proteins p21(ras)