Theranostics pp 137-145 | Cite as

Pharmacogenetics: Role of Single Nucleotide Polymorphisms

  • Emrah Yucesan
  • Nur Ozten
Part of the Methods in Molecular Biology book series (MIMB, volume 2054)


Genome sequencing methods have basically similar algorithms, although they show a few differences between the platforms. The human genome contains approximately three billion base pairs, and this amount is huge and therefore impossible to sequence at one step. However, this amount is not a problem for developed technology. Researchers break DNA into small random pieces and then sequence and reassemble. Library preparation, sequencing, bioinformatic approaches and reporting. High-quality library preparation is critical and the most important part of the next-generation sequencing workflow. Successful sequencing directly requires high-quality libraries. Sequencing is second step and all high-throughput sequencing approaches are generally based on conventional Sanger sequencing. After preparation of library and sequencing, later steps are completely computer-based (in silico) approaches called as bioinformatics.

Key words

Pharmacogenetics Genetic variants SNPs 


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Emrah Yucesan
    • 1
  • Nur Ozten
    • 1
    • 2
  1. 1.Institute of Life Sciences and BiotechnologyBezmialem Vakif UniversityIstanbulTurkey
  2. 2.Department of Pharmaceutical Toxicology, Faculty of PharmacyBezmialem Vakif UniversityIstanbulTurkey

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