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Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era

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Disease Gene Identification

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1706))

Abstract

The development of next generation sequencing (NGS) technologies has transformed the study of human genetic variation. In less than a decade, NGS has facilitated the discovery of causal mutations in both rare, monogenic diseases and common, heterogeneous disorders, leading to unprecedented improvements in disease diagnosis and treatment strategies. Given the rapid evolution of NGS platforms, it is now possible to analyze whole genomes and exomes quickly and affordably. Further, emerging NGS applications, such as single-cell sequencing, have the power to address specific issues like somatic variation, which is yielding new insights into the role of somatic mutations in cancer and late-onset diseases. Despite limitations associated with current iterations of NGS technologies, the impact of this approach on identifying disease-causing variants has been significant. This chapter provides an overview of several NGS platforms and applications and discusses how these technologies can be used in concert with experimental and computational strategies to identify variants with a causative effect on disease development and progression.

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Authors and Affiliations

  1. Translational Genomics Research Institute, 445 N 5th Street, Phoenix, AZ, 85004, USA

    Johanna K. DiStefano

  2. Roche Sequencing Solutions, Inc., 5945 Optical Court, San Jose, CA, 95138, USA

    Christopher B. Kingsley

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Correspondence to Johanna K. DiStefano .

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    Johanna K. DiStefano

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DiStefano, J.K., Kingsley, C.B. (2018). Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era. In: DiStefano, J. (eds) Disease Gene Identification. Methods in Molecular Biology, vol 1706. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7471-9_1

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  • DOI: https://doi.org/10.1007/978-1-4939-7471-9_1

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