RNA-sequencing in ophthalmology research: considerations for experimental design and analysis.

High-throughput, massively parallel sequence analysis has revolutionized the way that researchers design and execute scientific investigations. Vast amounts of sequence data can be generated in short periods of time. Regarding ophthalmology and vision research, extensive interrogation of patient sam...

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Publicado en:Therapeutic Advances in Ophthalmology Vol. 11
Autores principales: Owen, Nicholas, Moosajee, Mariya
Formato: pictorial review tables/charts Journal Article
Publicado: Sage Publications Inc. 2019
Acceso en línea:Ver este registro en EBSCOhost
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      dt: 2019
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      pub: Sage Publications Inc.
      place: Thousand Oaks, California
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        atl: RNA-sequencing in ophthalmology research: considerations for experimental design and analysis.
      aug:
        au:
          Owen, Nicholas
          Moosajee, Mariya
        affil: Development, Ageing and Disease Theme, UCL Institute of Ophthalmology, University College London, London, UK
      sug:
        subj:
          Research, Medical
          Ophthalmology
          Bioinformatics
          Sequence Analysis Methods
          RNA Analysis
          Gene Expression Evaluation
          Eye Diseases Diagnosis
          DNA Analysis
          Mutation Evaluation
          Eye Diseases Familial and Genetic
          Gene Expression Profiling
      ab: High-throughput, massively parallel sequence analysis has revolutionized the way that researchers design and execute scientific investigations. Vast amounts of sequence data can be generated in short periods of time. Regarding ophthalmology and vision research, extensive interrogation of patient samples for underlying causative DNA mutations has resulted in the discovery of many new genes relevant to eye disease. However, such analysis remains functionally limited. RNA-sequencing accurately snapshots thousands of genes, capturing many subtypes of RNA molecules, and has become the gold standard for transcriptome gene expression quantification. RNA-sequencing has the potential to advance our understanding of eye development and disease; it can reveal new candidates to improve our molecular diagnosis rates and highlight therapeutic targets for intervention. But with a wide range of applications, the design of such experiments can be problematic, no single optimal pipeline exists, and therefore, several considerations must be undertaken for optimal study design. We review the key steps involved in RNA-sequencing experimental design and the downstream bioinformatic pipelines used for differential gene expression. We provide guidance on the application of RNA-sequencing to ophthalmology and sources of open-access eye-related data sets.
      pubtype: Academic Journal
      doctype:
        pictorial
        review
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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