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Genotyping

Methods and Protocols

  • Book
  • © 2017

Overview

Editors:
  1. Stefan J. White

    1. Leiden Genome Technology Center Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  2. Stuart Cantsilieris

    1. Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • Includes cutting-edge methods and protocols
  • Provides step-by-step detail essential for reproducible results
  • Contains key notes and implementation advice from the experts
  • Includes supplementary material: sn.pub/extras

Part of the book series: Methods in Molecular Biology (MIMB, volume 1492)

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Table of contents (17 protocols)

  1. Front Matter

    Pages i-x
    Download chapter PDF

  2. Genetic Fingerprinting Using Microsatellite Markers in a Multiplex PCR Reaction: A Compilation of Methodological Approaches from Primer Design to Detection Systems

    • Jacqueline Krüger, Dorit Schleinitz
    Pages 1-15

  3. Genotyping DNA Variants with High-Resolution Melting Analysis

    • Rolf H. A. M. Vossen
    Pages 17-28

  4. High-Throughput Genotyping with TaqMan Allelic Discrimination and Allele-Specific Genotyping Assays

    • Angelika Heissl, Barbara Arbeithuber, Irene Tiemann-Boege
    Pages 29-57

  5. In Situ Single-Molecule RNA Genotyping Using Padlock Probes and Rolling Circle Amplification

    • Tomasz Krzywkowski, Thomas Hauling, Mats Nilsson
    Pages 59-76

  6. The MassARRAY® System for Targeted SNP Genotyping

    • Justine A. Ellis, Benjamin Ong
    Pages 77-94

  7. Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs)

    • Stuart Cantsilieris, Holly A. Stessman, Jay Shendure, Evan E. Eichler
    Pages 95-106

  8. Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1

    • Richard J. L. F. Lemmers
    Pages 107-125

  9. Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT)

    • Edward J. Hollox
    Pages 127-146

  10. Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA)

    • Suzan de Boer, Stefan J. White
    Pages 147-153

  11. Analysis of Multiallelic CNVs by Emulsion Haplotype Fusion PCR

    • Jess Tyson, John A. L. Armour
    Pages 155-165

  12. Quantitative DNA Analysis Using Droplet Digital PCR

    • Rolf H. A. M Vossen, Stefan J. White
    Pages 167-177

  13. Full-Length Mitochondrial-DNA Sequencing on the PacBio RSII

    • Rolf H. A. M. Vossen, Henk P. J. Buermans
    Pages 179-184

  14. Targeted Locus Amplification and Next-Generation Sequencing

    • Quint P. Hottentot, M. van Min, E. Splinter, Stefan J. White
    Pages 185-196

  15. Efficient, Cost-Effective, High-Throughput, Multilocus Sequencing Typing (MLST) Method, NGMLST, and the Analytical Software Program MLSTEZ

    • Yuan Chen, John R. Perfect
    Pages 197-202

  16. Rapid SNP Detection and Genotyping of Bacterial Pathogens by Pyrosequencing

    • Kingsley K. Amoako, Matthew C. Thomas, Timothy W. Janzen, Noriko Goji
    Pages 203-220

  17. Methods for Genotyping-by-Sequencing

    • Beth A. Rowan, Danelle K. Seymour, Eunyoung Chae, Derek S. Lundberg, Detlef Weigel
    Pages 221-242

  18. Describing Sequence Variants Using HGVS Nomenclature

    • Johan T. den Dunnen
    Pages 243-251

  19. Back Matter

    Pages 253-254
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Keywords

About this book

This volume explores a broad range of different genotyping techniques. Genotyping: Methods and Protocols consists of chapters that cover numerous topics such as: an overview of multiplexed microsatellite analysis; High Resolution Melt analysis and TaqMan-based assays; in situ analysis of variants in single RNA molecules; the MassARRAY system and Molecular Inversion Probes; Pulsed Field Gel Electrophoresis, Paralogue Ratio Test, and Multiplex Ligation-Dependent Probe Amplification; long-range PCR combined with PacBio sequencing; Targeted Locus Amplification; Multilocus Sequence Typing and rapid SNP detection with pyrosequencing; and genotyping-by-sequencing for plant analysis. Finally, the volume concludes with a summary of pertinent points to describe genetic variation. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step,readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.

Thorough and practical, Genotyping: Methods and Protocols is a valuable resource for anyone interested in learning more about the diverse field of genotyping.

Editors and Affiliations

  • Leiden Genome Technology Center Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

    Stefan J. White

  • Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA

    Stuart Cantsilieris

Bibliographic Information

  • Book Title: Genotyping

  • Book Subtitle: Methods and Protocols

  • Editors: Stefan J. White, Stuart Cantsilieris

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-4939-6442-0

  • Publisher: Humana New York, NY

  • eBook Packages: Springer Protocols

  • Copyright Information: Springer Science+Business Media New York 2017

  • Hardcover ISBN: 978-1-4939-6440-6Published: 08 November 2016

  • Softcover ISBN: 978-1-4939-8201-1Published: 08 June 2018

  • eBook ISBN: 978-1-4939-6442-0Published: 07 November 2016

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: X, 254

  • Number of Illustrations: 10 b/w illustrations, 55 illustrations in colour

  • Topics: Human Genetics

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