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Use of Linkage Analysis, Genome-Wide Association Studies, and Next-Generation Sequencing in the Identification of Disease-Causing Mutations

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Pharmacogenomics

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1015))

Abstract

For the past two decades, linkage analysis and genome-wide analysis have greatly advanced our knowledge of the human genome. But despite these successes the genetic architecture of diseases remains unknown. More recently, the availability of next-generation sequencing has dramatically increased our capability for determining DNA sequences that range from large portions of one individual’s genome to targeted regions of many genomes in a cohort of interest. In this review, we highlight the successes and shortcomings that have been achieved using genome-wide association studies (GWAS) to identify the variants contributing to disease. We further review the methods and use of new technologies, based on next-generation sequencing, that are becoming increasingly used to expand our knowledge of the causes of genetic disease.

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Acknowledgments

This work was supported the Kimmel Cancer Center and the Computational Medicine Center at Thomas Jefferson University Jefferson Medical College.

Author information

Authors and Affiliations

  1. Computational Medicine Center, Thomas Jefferson University Jefferson Medical College, Philadelphia, PA, USA

    Eric Londin

  2. Cancer Genomics Laboratory, Kimmel Cancer Center, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA, USA

    Priyanka Yadav

  3. Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA, USA

    Saul Surrey

  4. Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

    Larry J. Kricka

  5. Cancer Genomics Laboratory, Kimmel Cancer Center, Department of Cancer Biology, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA, USA

    Paolo Fortina

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  1. Eric Londin
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  2. Priyanka Yadav
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  3. Saul Surrey
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  4. Larry J. Kricka
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  5. Paolo Fortina
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Editor information

Editors and Affiliations

  1. Institute for Pharmacogenomics, and Individualized Therapy, University of North Carolina, Mason Farm Rd. 120, Chapel Hill, 27599-7361, North Carolina, USA

    Federico Innocenti

  2. , Dept. of Clinical Chemistry (AKC), Erasmus MC, Gravendijkwal 230, Rotterdam, 3015, Netherlands

    Ron H.N. van Schaik

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Londin, E., Yadav, P., Surrey, S., Kricka, L.J., Fortina, P. (2013). Use of Linkage Analysis, Genome-Wide Association Studies, and Next-Generation Sequencing in the Identification of Disease-Causing Mutations. In: Innocenti, F., van Schaik, R. (eds) Pharmacogenomics. Methods in Molecular Biology, vol 1015. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-435-7_8

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  • DOI: https://doi.org/10.1007/978-1-62703-435-7_8

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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-62703-434-0

  • Online ISBN: 978-1-62703-435-7

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