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Ángel Maquieira - One of the best experts on this subject based on the ideXlab platform.

  • Primer design for SNP genotyping based on allele-specific amplification-Application to organ transplantation pharmacogenomics.
    Journal of pharmaceutical and biomedical analysis, 2016
    Co-Authors: Luis A. Tortajada-genaro, Rosa Puchades, Ángel Maquieira
    Abstract:

    Diagnostic methods based on single nucleotide polymorphism (SNP) biomarkers are essential for the real adoption of personalized medicine. Allele specific amplification in a homogeneous format or combined to microarray hybridization are powerful approaches for SNP genotyping. However, primers must be properly selected to minimize cross-reactivity, dimer formation and nonspecific hybridization. This study presents a design Workflow Diagram for the selection of required oligonucleotides for multiplex assays. Based on thermodynamic restrictions, the oligonucleotide sets are chosen for a specific amplification of wild- and mutant-type templates. Design constraints include the structural stability of primer-template duplexes, template-probe duplexes and self-annealing complexes or hairpins for each targeted gene. The performance of the design algorithm was evaluated for the simultaneous genotyping of three SNPs related to immunosuppressive drugs administered after solid organ transplantation. The assayed polymorphisms were rs1045642 (ABCB1 gene), rs1801133 (MTHFR gene) and rs776746 (CYP3A5 gene). Candidates were confirmed by discriminating homozygote and heterozygote populations using a fluorescence solution method and two colorimetric microarray methods on polycarbonate chips. The analysis of patient samples provided excellent genotyping results compared to those obtained by a reference method. The study demonstrates that the development of the allele-specific methods as pharmacogenetic tools can be simplified.

Katrin Kirchhoff - One of the best experts on this subject based on the ideXlab platform.

  • Modeling Workflow to design machine translation applications for public health practice
    Journal of biomedical informatics, 2014
    Co-Authors: Anne M. Turner, Megumu Brownstein, Kate Cole, Hilary N. Karasz, Katrin Kirchhoff
    Abstract:

    Display Omitted Participatory design was used to model translation processes and inform the design of a public health translation tool.Time and language limitations are barriers to providing multilingual materials for limited English proficiency groups.Translation work is distributed, episodic and involves multiple quality assurance steps.A collaborative machine translation system may provide an efficient way to create public health multilingual materials. ObjectiveProvide a detailed understanding of the information Workflow processes related to translating health promotion materials for limited English proficiency individuals in order to inform the design of context-driven machine translation (MT) tools for public health (PH). Materials and methodsWe applied a cognitive work analysis framework to investigate the translation information Workflow processes of two large health departments in Washington State. Researchers conducted interviews, performed a task analysis, and validated results with PH professionals to model translation Workflow and identify functional requirements for a translation system for PH. ResultsThe study resulted in a detailed description of work related to translation of PH materials, an information Workflow Diagram, and a description of attitudes towards MT technology. We identified a number of themes that hold design implications for incorporating MT in PH translation practice. A PH translation tool prototype was designed based on these findings. DiscussionThis study underscores the importance of understanding the work context and information Workflow for which systems will be designed. Based on themes and translation information Workflow processes, we identified key design guidelines for incorporating MT into PH translation work. Primary amongst these is that MT should be followed by human review for translations to be of high quality and for the technology to be adopted into practice. ConclusionThe time and costs of creating multilingual health promotion materials are barriers to translation. PH personnel were interested in MT's potential to improve access to low-cost translated PH materials, but expressed concerns about ensuring quality. We outline design considerations and a potential machine translation tool to best fit MT systems into PH practice.

Anne M. Turner - One of the best experts on this subject based on the ideXlab platform.

  • Modeling Workflow to design machine translation applications for public health practice
    Journal of biomedical informatics, 2014
    Co-Authors: Anne M. Turner, Megumu Brownstein, Kate Cole, Hilary N. Karasz, Katrin Kirchhoff
    Abstract:

    Display Omitted Participatory design was used to model translation processes and inform the design of a public health translation tool.Time and language limitations are barriers to providing multilingual materials for limited English proficiency groups.Translation work is distributed, episodic and involves multiple quality assurance steps.A collaborative machine translation system may provide an efficient way to create public health multilingual materials. ObjectiveProvide a detailed understanding of the information Workflow processes related to translating health promotion materials for limited English proficiency individuals in order to inform the design of context-driven machine translation (MT) tools for public health (PH). Materials and methodsWe applied a cognitive work analysis framework to investigate the translation information Workflow processes of two large health departments in Washington State. Researchers conducted interviews, performed a task analysis, and validated results with PH professionals to model translation Workflow and identify functional requirements for a translation system for PH. ResultsThe study resulted in a detailed description of work related to translation of PH materials, an information Workflow Diagram, and a description of attitudes towards MT technology. We identified a number of themes that hold design implications for incorporating MT in PH translation practice. A PH translation tool prototype was designed based on these findings. DiscussionThis study underscores the importance of understanding the work context and information Workflow for which systems will be designed. Based on themes and translation information Workflow processes, we identified key design guidelines for incorporating MT into PH translation work. Primary amongst these is that MT should be followed by human review for translations to be of high quality and for the technology to be adopted into practice. ConclusionThe time and costs of creating multilingual health promotion materials are barriers to translation. PH personnel were interested in MT's potential to improve access to low-cost translated PH materials, but expressed concerns about ensuring quality. We outline design considerations and a potential machine translation tool to best fit MT systems into PH practice.

  • MedInfo - Exploring local public health work in the context of novel translation technologies.
    Studies in health technology and informatics, 2013
    Co-Authors: Hannah Mandel, Anne M. Turner
    Abstract:

    Limited English proficiency (LEP) leads to disparities in health and health care. Although the LEP population in the US is growing and federal regulations require availability of translated health promotion materials, availability of these materials is lacking, partially due to the costs and time required to produce high quality translations. We conducted semi-structured interviews with employees involved in the translation process at three local health districts (LHDs) in Washington State to explore the potential for novel technologies to assist in the creation of multilingual health promotion materials. We generated a translation Workflow Diagram and analyzed key themes that affected the translation process. We also explored employees' opinions regarding electronic document exchange and machine translation technology (MT). Overall, public health employees were open to the incorporation of information technologies to speed the translation and dissemination of multilingual public health materials if quality could be assured.

Patrick Byrne - One of the best experts on this subject based on the ideXlab platform.

  • Characterisation of road-dust sediment in urban systems: a review of a global challenge
    Journal of Soils and Sediments, 2020
    Co-Authors: Haydn M. Haynes, Kevin G. Taylor, James Rothwell, Patrick Byrne
    Abstract:

    Purpose The proportion of people living in urbanised areas is predicted to rise to > 65% by 2050, and therefore, more humans than ever will be exposed to urban environmental pollution. Accumulation of organic and inorganic substances on street and road surfaces is a major global challenge requiring scientifically robust methods of establishing risk that inform management strategies. This aim of this contribution is to critically review the global literature on urban road–deposited sediment contamination with a specific focus on variability in sampling and analytical methods. Materials and methods In order to assess the concentration of contaminants in global road-deposited sediment (RDS), a comprehensive search of published RDS studies was completed. We review methodological approaches used in RDS studies to highlight the variability in datasets as a result of sampling technique, grain size fractionation, geochemical and mineralogical characterisation methods and establishing the influence of local geology on contaminant concentrations. We also consider emerging contaminants in RDS, and we provide a Workflow Diagram which promotes a standardised sampling and analysis regime that we believe can reduce data variability and promote collaboration when it comes to tackling the important issue of RDS contamination. Results and discussion Across the literature, Asia (except China) and Africa are underrepresented in RDS studies despite these continents having the largest and fastest growing populations, respectively. The removal of tetraethyl lead from gasoline produced a noticeable decrease in lead concentrations in global RDS, and platinum group element (PGE) concentrations in RDS were consistent with catalytic converter usage. Research into the impact of electric vehicles on non-exhaust emissions suggests other contaminants such as zinc may become more prominent in the future. Most RDS studies consider grain size fractions larger than > 20 μm due to sampling constraints despite RDS

  • Characterisation of road-dust sediment in urban systems: A review of a global challenge
    Journal of Soils and Sediments, 2020
    Co-Authors: Haydn M. Haynes, Kevin G. Taylor, James J. Rothwell, Patrick Byrne
    Abstract:

    The proportion of people living in urbanised areas is predicted to rise to > 65% by 2050, and therefore, more humans than ever will be exposed to urban environmental pollution. Accumulation of organic and inorganic substances on street and road surfaces is a major global challenge requiring scientifically robust methods of establishing risk that inform management strategies. This aim of this contribution is to critically review the global literature on urban road–deposited sediment contamination with a specific focus on variability in sampling and analytical methods. In order to assess the concentration of contaminants in global road-deposited sediment (RDS), a comprehensive search of published RDS studies was completed. We review methodological approaches used in RDS studies to highlight the variability in datasets as a result of sampling technique, grain size fractionation, geochemical and mineralogical characterisation methods and establishing the influence of local geology on contaminant concentrations. We also consider emerging contaminants in RDS, and we provide a Workflow Diagram which promotes a standardised sampling and analysis regime that we believe can reduce data variability and promote collaboration when it comes to tackling the important issue of RDS contamination. Across the literature, Asia (except China) and Africa are underrepresented in RDS studies despite these continents having the largest and fastest growing populations, respectively. The removal of tetraethyl lead from gasoline produced a noticeable decrease in lead concentrations in global RDS, and platinum group element (PGE) concentrations in RDS were consistent with catalytic converter usage. Research into the impact of electric vehicles on non-exhaust emissions suggests other contaminants such as zinc may become more prominent in the future. Most RDS studies consider grain size fractions larger than > 20 μm due to sampling constraints despite RDS

Luis A. Tortajada-genaro - One of the best experts on this subject based on the ideXlab platform.

  • Primer design for SNP genotyping based on allele-specific amplification-Application to organ transplantation pharmacogenomics.
    Journal of pharmaceutical and biomedical analysis, 2016
    Co-Authors: Luis A. Tortajada-genaro, Rosa Puchades, Ángel Maquieira
    Abstract:

    Diagnostic methods based on single nucleotide polymorphism (SNP) biomarkers are essential for the real adoption of personalized medicine. Allele specific amplification in a homogeneous format or combined to microarray hybridization are powerful approaches for SNP genotyping. However, primers must be properly selected to minimize cross-reactivity, dimer formation and nonspecific hybridization. This study presents a design Workflow Diagram for the selection of required oligonucleotides for multiplex assays. Based on thermodynamic restrictions, the oligonucleotide sets are chosen for a specific amplification of wild- and mutant-type templates. Design constraints include the structural stability of primer-template duplexes, template-probe duplexes and self-annealing complexes or hairpins for each targeted gene. The performance of the design algorithm was evaluated for the simultaneous genotyping of three SNPs related to immunosuppressive drugs administered after solid organ transplantation. The assayed polymorphisms were rs1045642 (ABCB1 gene), rs1801133 (MTHFR gene) and rs776746 (CYP3A5 gene). Candidates were confirmed by discriminating homozygote and heterozygote populations using a fluorescence solution method and two colorimetric microarray methods on polycarbonate chips. The analysis of patient samples provided excellent genotyping results compared to those obtained by a reference method. The study demonstrates that the development of the allele-specific methods as pharmacogenetic tools can be simplified.