Overview
- Editors:
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Michael R. Barnes
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Medicines Research Centre, GlaxoSmithKline R&D Limited, Stevenage, Hertfordshire, United Kingdom
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Gerome Breen
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Institute of Psychiatry, Social, Genetic & Developmental, King's College, London, United Kingdom
- 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
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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.
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Article
Open access
30 September 2015
Table of contents (20 protocols)
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- Jacqueline Schoumans, Claudia Ruivenkamp
Pages 53-73
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- Emily A. Vucic, Kelsie L. Thu, Ariane C. Williams, Wan L. Lam, Bradley P. Coe
Pages 103-117
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- Michael R. Barnes, Gerome Breen
Pages 119-135
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- Richard Cordaux, Shurjo K. Sen, Miriam K. Konkel, Mark A. Batzer
Pages 137-151
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- David A. Ray, Kyudong Han, Jerilyn A. Walker, Mark A. Batzer
Pages 153-179
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- Fahad R. Ali, Kate Haddley, John P. Quinn
Pages 195-214
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- Pauline C. Ng, Ewen F. Kirkness
Pages 215-226
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- Kim J. Krishnan, John K. Blackwood, Amy K. Reeve, Douglass M. Turnbull, Robert W. Taylor
Pages 227-257
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- Hsueh-Wei Chang, Li-Yeh Chuang, Yu-Huei Cheng, De-Leung Gu, Hurng-Wern Huang, Cheng-Hong Yang
Pages 259-274
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- Christoph Bock, Greg Von Kuster, Konstantin Halachev, James Taylor, Anton Nekrutenko, Thomas Lengauer
Pages 275-296
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- Bo Eskerod Madsen, Palle Villesen, Carsten Wiuf
Pages 297-306
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- Sean D. Mooney, Vidhya G. Krishnan, Uday S. Evani
Pages 307-319
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- Elin Grundberg, Tony Kwan, Tomi M. Pastinen
Pages 321-339
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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
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Medicines Research Centre, GlaxoSmithKline R&D Limited, Stevenage, Hertfordshire, United Kingdom
Michael R. Barnes
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Institute of Psychiatry, Social, Genetic & Developmental, King's College, London, United Kingdom
Gerome Breen