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Genetic Variation

Methods and Protocols

  • Book
  • © 2010

Overview

Editors:
  1. Michael R. Barnes

    1. Medicines Research Centre, GlaxoSmithKline R&D Limited, Stevenage, Hertfordshire, United Kingdom

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  2. Gerome Breen

    1. Institute of Psychiatry, Social, Genetic & Developmental, King's College, London, United Kingdom

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    You can also search for this editor in PubMed   Google Scholar

  • Division of Psychological Medicine and Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College London, London, UK
  • Includes supplementary material: sn.pub/extras

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

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Table of contents (20 protocols)

  1. Gaining a Pathway Insight into Genetic Association Data

    • Inti Pedroso
    Pages 373-382

  2. Back Matter

    Pages 383-388
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Keywords

About this book

“Your genome is an email attachment” What a difference a few years can make? In 2001, to a global fanfare, the completion of the frst draft sequence of the human genome was announced. This had been a Herculean effort, involving thousands of researchers and millions of dollars. Today, a project to re-sequence 1,000 genomes is well underway, and within a year or two, your own “personal genome” is likely to be available for a few thousand pounds, a price that will undoubtedly decrease further. We are fast approaching the day when your genome will be available as an email attachment (about 4 Mb). The key to this feat is the fact that any two human genomes are more than 99% identical, so rather than representing every base, there is really only a requirement to store the 1% of variable sequence judged against a common reference genome. This brings us directly to the focus of this edition of Methods in Molecular Biology, Genetic Variation. The human genome was once the focus of biology, but now individual genome var- tion is taking the center stage. This new focus on individual variation ultimately democ- tizes biology, offering individuals insight into their own phenotype. But these advances also raise huge concerns of data misuse, misinterpretation, and misunderstanding. The immediacy of individual genomes also serves to highlight our relative ignorance of human genetic variation, underlining the need for more studies of the nature and impact of genetic variation on human phenotypes.

Reviews

From the reviews:

“Genetic variation is addressed in this volume of Methods in Molecular Biology that provides an overview of all forms of human genomic variation … . present tools for interpretation and quality control of the genome-wide association studies (GWAS). This book is recommended for researchers and students interested in concepts, applications and tools to study human genetics and bioinformatics.” (Rosario Dominguez Crespo Hirata, Brazilian Journal of Pharmaceutical Sciences, Vol. 47 (2), Summer, 2011)

Editors and Affiliations

  • Medicines Research Centre, GlaxoSmithKline R&D Limited, Stevenage, Hertfordshire, United Kingdom

    Michael R. Barnes

  • Institute of Psychiatry, Social, Genetic & Developmental, King's College, London, United Kingdom

    Gerome Breen

Bibliographic Information

  • Book Title: Genetic Variation

  • Book Subtitle: Methods and Protocols

  • Editors: Michael R. Barnes, Gerome Breen

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-60327-367-1

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Humana Press 2010

  • Hardcover ISBN: 978-1-60327-366-4Published: 17 September 2010

  • Softcover ISBN: 978-1-62703-826-3Published: 20 October 2014

  • eBook ISBN: 978-1-60327-367-1Published: 17 March 2010

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: XI, 388

  • Topics: Biochemistry, general, Human Genetics, Gene Expression

  • Industry Sectors: Biotechnology, Consumer Packaged Goods, Pharma

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