Next-Generation Sequencing Informatics.

Context.--Next-generation sequencing (NGS) is revolutionizing the discipline of laboratory medicine, with a deep and direct impact on patient care. Although it empowers clinical laboratories with unprecedented genomic sequencing capability, NGS has brought along obvious and obtrusive informatics cha...

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Publicado en:Archives of Pathology & Laboratory Medicine Vol. 140; no. 9; pp. 958 - 976
Autores principales: Roy, Somak, LaFramboise, William A., Nikiforov, Yuri E., Nikiforova, Marina N., Routbort, Mark J., Pfeifer, John, Nagarajan, Rakesh, Carter, Alexis B., Pantanowitz, Liron
Formato: review tables/charts Journal Article
Publicado: College of American Pathologists Sep2016
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Sep2016
      vid: 140
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      pub: College of American Pathologists
      place: Northfield, Illinois
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        atl: Next-Generation Sequencing Informatics.
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        au:
          Roy, Somak
          LaFramboise, William A.
          Nikiforov, Yuri E.
          Nikiforova, Marina N.
          Routbort, Mark J.
          Pfeifer, John
          Nagarajan, Rakesh
          Carter, Alexis B.
          Pantanowitz, Liron
        affil: Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania
      sug:
        subj:
          Sequence Analysis Methods
          Bioinformatics
          Medical Informatics
          Sequence Analysis History
          Quality Control (Technology)
          Data Analysis
          Specimen Handling
          Access to Information
          Clinical Laboratory Information Systems
          Systems Design
          Computer Storage Devices
          Data Security
          Computers and Computerization
          Data Analytics
          Information Systems Equipment and Supplies
      ab: Context.--Next-generation sequencing (NGS) is revolutionizing the discipline of laboratory medicine, with a deep and direct impact on patient care. Although it empowers clinical laboratories with unprecedented genomic sequencing capability, NGS has brought along obvious and obtrusive informatics challenges. Bioinformatics and clinical informatics are separate disciplines with typically a small degree of overlap, but they have been brought together by the enthusiastic adoption of NGS in clinical laboratories. The result has been a collaborative environment for the development of novel informatics solutions. Sustaining NGS-based testing in a regulated clinical environment requires institutional support to build and maintain a practical, robust, scalable, secure, and cost-effective informatics infrastructure. Objective.--To discuss the novel NGS informatics challenges facing pathology laboratories today and offer solutions and future developments to address these obstacles. Data Sources.--The published literature pertaining to NGS informatics was reviewed. The coauthors, experts in the fields of molecular pathology, precision medicine, and pathology informatics, also contributed their experiences. Conclusions.--The boundary between bioinformatics and clinical informatics has significantly blurred with the introduction of NGS into clinical molecular laboratories. Next-generation sequencing technology and the data derived from these tests, if managed well in the clinical laboratory, will redefine the practice of medicine. In order to sustain this progress, adoption of smart computing technology will be essential. Computational pathologists will be expected to play a major role in rendering diagnostic and theranostic services by leveraging "Big Data" and modern computing tools.
      pubtype: Academic Journal
      doctype:
        review
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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