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Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era

  • Johanna K. DiStefanoEmail author
  • Christopher B. Kingsley
Protocol
Part of the Methods in Molecular Biology book series (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.

Key words

Genetics Human disease Next generation sequencing Causal variant Whole genome sequencing Exome sequencing Single cell sequencing Somatic mosaicism 

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Copyright information

© Springer Science+Business Media, LLC 2018

Authors and Affiliations

  • Johanna K. DiStefano
    • 1
    Email author
  • Christopher B. Kingsley
    • 2
  1. 1.Translational Genomics Research InstitutePhoenixUSA
  2. 2.Roche Sequencing Solutions, Inc.San JoseUSA

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