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.
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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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