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Pharmacogenomics

Volume 1015 of the series Methods in Molecular Biology pp 127-146

Date:

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

  • Eric LondinAffiliated withComputational Medicine Center, Thomas Jefferson University Jefferson Medical College
  • , Priyanka YadavAffiliated withCancer Genomics Laboratory, Kimmel Cancer Center, Thomas Jefferson University, Jefferson Medical College
  • , Saul SurreyAffiliated withDepartment of Medicine, Thomas Jefferson University, Jefferson Medical College
  • , Larry J. KrickaAffiliated withDepartment of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine
  • , Paolo FortinaAffiliated withCancer Genomics Laboratory, Kimmel Cancer Center, Department of Cancer Biology, Thomas Jefferson University, Jefferson Medical College

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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.

Key words

Linkage analysis Genome-wide association study Massively parallel sequencing NGS-applications Pharmacogenomics