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Application of High-Throughput Technologies in Personal Genomics: How Is the Progress in Personal Genome Service?

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Clinical Relevance of Genetic Factors in Pulmonary Diseases

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Abstract

The advent of high-throughput profiling technologies, in particular next-generation sequencing, has revolutionized our genomic studies and provided unprecedented insights into the human diseases. The use of genetic testing in the clinical settings has grown substantially and has now entered medical practice around the world. Here we provide an overview of recent advances in various high-throughput methods for genomic and functional genomic analyses. Next we review recent findings in genomics, ranging from single nucleotide polymorphisms associated with respiratory diseases and genomic alterations in lung cancers to aberrant gene expressions in lung diseases. Finally, we summarize the current status of clinical sequencing efforts and further describe challenges in the clinical implementation of personal genomic medicine. We anticipate increase in the use of clinical sequencing, which require sufficient resource of computation to interpret large genomic datasets in a clinical laboratory. It is also crucial to extend existing electronic medical record systems so that we can interact with genomic data and make full use of personal genomic information. Furthermore, standardization of genomic data is also necessary for the efficient exchange of patients’ genomes between hospitals.

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Authors and Affiliations

  1. Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan

    Kaoru Mogushi

  2. Preventive Medicine and Applied Genomics Unit, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, Japan

    Kaoru Mogushi & Hideya Kawaji

  3. RIKEN Preventive Medicine and Diagnosis Innovation Program, Yokohama, Kanagawa, Japan

    Yasuhiro Murakawa & Hideya Kawaji

  4. RIKEN-HMC Clinical Omics Unit, Riken Baton Zone Program, Yokohama, Kanagawa, Japan

    Yasuhiro Murakawa

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  1. Kaoru Mogushi
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  2. Yasuhiro Murakawa
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  3. Hideya Kawaji
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Correspondence to Yasuhiro Murakawa .

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  1. Yokohama City University, Yokohama, Kanagawa, Japan

    Takeshi Kaneko

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Mogushi, K., Murakawa, Y., Kawaji, H. (2018). Application of High-Throughput Technologies in Personal Genomics: How Is the Progress in Personal Genome Service?. In: Kaneko, T. (eds) Clinical Relevance of Genetic Factors in Pulmonary Diseases. Respiratory Disease Series: Diagnostic Tools and Disease Managements. Springer, Singapore. https://doi.org/10.1007/978-981-10-8144-6_17

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  • DOI: https://doi.org/10.1007/978-981-10-8144-6_17

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