Genetic Variation

Methods and Protocols

  • Michael R. Barnes
  • Gerome Breen

Part of the Methods in Molecular Biology book series (MIMB, volume 628)

Table of contents

  1. Front Matter
    Pages i-xi
  2. Michael R. Barnes
    Pages 21-38
  3. Jacqueline Schoumans, Claudia Ruivenkamp
    Pages 53-73
  4. Ian P. Barrett
    Pages 75-102
  5. Emily A. Vucic, Kelsie L. Thu, Ariane C. Williams, Wan L. Lam, Bradley P. Coe
    Pages 103-117
  6. Richard Cordaux, Shurjo K. Sen, Miriam K. Konkel, Mark A. Batzer
    Pages 137-151
  7. David A. Ray, Kyudong Han, Jerilyn A. Walker, Mark A. Batzer
    Pages 153-179
  8. Fahad R. Ali, Kate Haddley, John P. Quinn
    Pages 195-214
  9. Pauline C. Ng, Ewen F. Kirkness
    Pages 215-226
  10. Kim J. Krishnan, John K. Blackwood, Amy K. Reeve, Douglass M. Turnbull, Robert W. Taylor
    Pages 227-257
  11. Hsueh-Wei Chang, Li-Yeh Chuang, Yu-Huei Cheng, De-Leung Gu, Hurng-Wern Huang, Cheng-Hong Yang
    Pages 259-274
  12. Christoph Bock, Greg Von Kuster, Konstantin Halachev, James Taylor, Anton Nekrutenko, Thomas Lengauer
    Pages 275-296
  13. Bo Eskerod Madsen, Palle Villesen, Carsten Wiuf
    Pages 297-306
  14. Sean D. Mooney, Vidhya G. Krishnan, Uday S. Evani
    Pages 307-319
  15. Elin Grundberg, Tony Kwan, Tomi M. Pastinen
    Pages 321-339
  16. Back Matter
    Pages 383-388

About this book


With the continuing advances in sequencing technologies and the availability of thousands of distinct human genomes, we are fast approaching the day when "personal genomes" become a standard study measure and a routine component of personal health records.  In Genetic Variation: Methods and Protocols, expert researchers address the rising importance of genome variation, both at the level of the individual and in population-based studies of disease, with a collection of detailed protocols reflecting the nature and impact of genetic variation on human phenotypes.  The contributions cover a majority of the most important forms of genetic variation studied today, including single nucleotide polymorphisms (SNPs), insertions/deletion (indels), copy number variation (CNVs), variable number tandem repeats (VNTRs), mitochondrial variation, mobile elements, and epigenetic variation.  As a volume in the highly successful Methods in Molecular Biology™ series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls.
Convenient and cutting-edge, Genetic Variation: Methods and Protocols aims to bring bench scientists, clinicians, and bioinformaticians together in order to aid progress toward a greater understanding of the full impact of variation on human health and disease.


Bioinformatics Copy number variation (CNVs) DNA Genome sequencing Human phenotypes Personalized medicine Radiologieinformationssystem Single Nucleotide Polymorphism Single nucleotide polymorphisms (SNPs) Variable number tandem repeats (VNTRs) chromosome gene expression genes genome transcription

Editors and affiliations

  • Michael R. Barnes
    • 1
  • Gerome Breen
    • 2
  1. 1.Medicines Research CentreGlaxoSmithKline R&D LimitedStevenage, HertfordshireUnited Kingdom
  2. 2.Institute of Psychiatry, Social, Genetic & DevelopmentalKing's CollegeLondonUnited Kingdom

Bibliographic information

  • DOI
  • Copyright Information Humana Press 2010
  • Publisher Name Humana Press, Totowa, NJ
  • eBook Packages Springer Protocols
  • Print ISBN 978-1-60327-366-4
  • Online ISBN 978-1-60327-367-1
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • Buy this book on publisher's site