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  • © 2009

Single Nucleotide Polymorphisms

Methods and Protocols

Editors:

  • Fully updated from the first edition to offer cutting-edge methods for SNP detection and analysis
  • Offers a unique overview of next generation sequencing and genotyping approaches
  • Contains review chapters comparing methods capabilities, error rates, and costs
  • Provides advanced techniques as well as descriptions of simple approaches which do not require sophisticated equipment
  • Low and high-throughput, single and multiplex applications are presented
  • Includes supplementary material: sn.pub/extras

Part of the book series: Methods in Molecular Biology (MIMB, volume 578)

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Table of contents (28 protocols)

  1. Front Matter

    Pages i-xiv
  2. Introduction to Single Nucleotide Polymorphisms

    1. Front Matter

      Pages 1-1
    2. SNPs: Impact on Gene Function and Phenotype

      • Barkur S. Shastry
      Pages 3-22
    3. Silent (Synonymous) SNPs: Should We Care About Them?

      • Ryan Hunt, Zuben E. Sauna, Suresh V. Ambudkar, Michael M. Gottesman, Chava Kimchi-Sarfaty
      Pages 23-39
  3. Bioinformatic Analysis of SNPs

    1. Front Matter

      Pages 41-41
    2. SNP Databases

      • Christopher Phillips
      Pages 43-71
  4. SNP Identification and Detection Strategies: Whole Genome Sequencing and Re-Sequencing

    1. Front Matter

      Pages 93-93
    2. Pyrosequencing for SNP Genotyping

      • Jose Luis Royo, Jose Jorge Galán
      Pages 123-133
  5. Prescreening (Melting Based) Methods for SNP Discovery and Analysis

    1. Front Matter

      Pages 135-135
  6. Prescreening (Conformation Based) Methods for SNP Discovery and Analysis

    1. Front Matter

      Pages 167-167
    2. Zn(II)–Cyclen Polyacrylamide Gel Electrophoresis for SNP Detection

      • Emiko Kinoshita-Kikuta, Eiji Kinoshita, Tohru Koike
      Pages 169-182
    3. Phosphate-Affinity Polyacrylamide Gel Electrophoresis for SNP Genotyping

      • Eiji Kinoshita, Emiko Kinoshita-Kikuta, Tohru Koike
      Pages 183-192
    4. Estimation of SNP Allele Frequencies by SSCP Analysis of Pooled DNA

      • Tomoko Tahira, Yoji Kukita, Koichiro Higasa, Yuko Okazaki, Aki Yoshinaga, Kenshi Hayashi
      Pages 193-207
    5. Phenylethynylpyrene Excimer Forming Hybridization Probes for Fluorescence SNP Detection

      • Igor A. Prokhorenko, Irina V. Astakhova, Kuvat T. Momynaliev, Timofei S. Zatsepin, Vladimir A. Korshun
      Pages 209-222
    6. The Chemical Cleavage of Mismatch for the Detection of Mutations in Long DNA Fragments

      • Tania Tabone, Georgina Sallmann, Richard G. H. Cotton
      Pages 223-234

About this book

In recent years, single nucleotide polymorphisms have received increased and special attention in a rapidly developing field of personalized medicine and drug treatment. Comprising more than eighty percent of all known polymorphisms, single nucleotide polymorphisms (SNPs) are primarily responsible for phenotypic differences between individuals, and have been suggested to affect the development of diseases in humans and the response to drug treatment and environmental stress. In Single Nucleotide Polymorphisms: Methods and Protocols, Second Edition, expert researchers explore the latest advances in this area, highlighting the substantial progress that has been made in SNP genotyping, examining recent developments in high-throughput genotyping approaches, and exploring our new understanding of the impact of SNPs on gene function. Chapters address the impact of SNPs on phenotype, examine SNP databases, look at methods that have been applied for SNP bioinformatics discovery and analysis, and discuss advanced experimental approaches used for SNP detection. Composed in the highly successful Methods in Molecular Biology™ series format, each chapter contains a brief introduction, step-by-step methods, a list of necessary materials, and a Notes section which shares tips on troubleshooting and avoiding known pitfalls.

Current and innovative, Single Nucleotide Polymorphisms: Methods and Protocols, Second Edition is an essential guidebook for individual researchers as well as institutions and companies working in the field.

Reviews

From the reviews of the second edition:

“This second edition brings 11 new chapters … . Its target audience continues to be researchers and laboratory personnel. One helpful feature the book includes is a set of ‘notes’ at the end of each chapter … to be very useful for readers choosing to utilize a technique for the first time. … Overall, this book is a good addition to any laboratory setting actively working on complex human traits or interested in personalized medicine and drug treatments.” (Alexandre R. Vieira, Birth Defects Research (Part A): Clinical and Molecular Teratology, Vol. 88 (12), 2010)

Editors and Affiliations

  • Center for Gene Regulation in, Cleveland State University, Cleveland, U.S.A.

    Anton A. Komar

Bibliographic Information

  • Book Title: Single Nucleotide Polymorphisms

  • Book Subtitle: Methods and Protocols

  • Editors: Anton A. Komar

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-60327-411-1

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Humana Press 2009

  • Hardcover ISBN: 978-1-60327-410-4Published: 27 October 2009

  • Softcover ISBN: 978-1-61779-679-1Published: 25 February 2012

  • eBook ISBN: 978-1-60327-411-1Published: 19 September 2009

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 2

  • Number of Pages: XIV, 464

  • Number of Illustrations: 82 b/w illustrations, 18 illustrations in colour

  • Additional Information: Originally published as volume 212 in the series: Methods in Molecular Biology

  • Topics: Human Genetics, Cell Biology, Gene Function

Buy it now

Buying options

eBook USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access