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Genomic Approaches to Eye Diseases: An Asian Perspective

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Advances in Vision Research, Volume II

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

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Abstract

Recent advances in genomic technologies, particularly next-generation sequencing (NGS) methods, have brought a paradigm shift in discovering eye disease-associated genetic variants from linkage and genome-wide association studies to NGS-based genome/exome studies. Whole-genome sequencing (WGS) remains prohibitively expensive for most applications and requires concurrent development of bioinformatic approaches to expeditiously analyze the large data sets; whole-exome sequencing (WES) is now made as a viable approach to uncover unknown etiology with a limited number of probands with eye disease. WES focuses on only the protein-coding sequence of human genome, has become a powerful tool with many advantages in the research setting, and moreover is now being implemented into the clinical diagnostic arena. Here, we review the current literature on technical approaches and to provide recommendations for bioinformatic analysis focusing WES and WGS methods. We highlight its successful applications for identifying causative variants in various eye diseases with emphasis on Asian data and discuss its implementation in the clinical settings.

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No animal or human studies were carried out by the authors for this article.

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Authors and Affiliations

  1. Department of Bioinformatics, Aravind Medical Research Foundation, Madurai, India

    Bharanidharan Devarajan

  2. Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, India

    Ayyasamy Vanniarajan & Periasamy Sundaresan

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  1. Bharanidharan Devarajan
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  3. Periasamy Sundaresan
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Correspondence to Bharanidharan Devarajan .

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Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Gyan Prakash

  2. National Institute of Sensory Organs Tokyo Medical Center, National Hospital Organization, Tokyo, Japan

    Takeshi Iwata

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Devarajan, B., Vanniarajan, A., Sundaresan, P. (2019). Genomic Approaches to Eye Diseases: An Asian Perspective. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume II. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-13-0884-0_33

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  • DOI: https://doi.org/10.1007/978-981-13-0884-0_33

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