"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.
1. Genetic Variation Analysis for Biomedical ResearchersMichael R. Barnes2. Exploring the Landscape of the GenomeMichael R. Barnes3. Asking Complex Questions of the Genome without ProgrammingPeter M. Woollard4. Laboratory Methods for the Detection of Chromosomal AbnormalitiesJacqueline Schoumans and Claudia Ruivenkamp5. Cancer Genome Analysis InformaticsIan P. Barrett6. Copy Number Variations in the Human Genome and Strategies for AnalysisEmily A. Vucic, Kelsie L. Thu, Ariane C. Williams, Wan L. Lam, and Bradley P. Coe7. A Short Primer on the Functional Analysis of Copy Number Variation for Biomedical ScientistsMichael R. Barnes and Gerome Breen8. Computational Methods for the Analysis of Primate Mobile ElementsRichard Cordaux, Shurjo K. Sen, Miriam K. Konkel, and Mark A. Batzer9. Laboratory Methods for the Analysis of Primate Mobile ElementsDavid A. Ray, Kyudong Han, Jerilyn A. Walker, and Mark A. Batzer10. Practical Informatics Approaches to Microsatellite and Variable Number Tandem Repeat AnalysisGerome Breen11. Assessing the Impact of Genetic Variation on Transcriptional Regulation in vitroFahad R. Ali, Kate Haddley, and John P. Quinn12. Whole Genome SequencingPauline C. Ng and Ewen F. Kirkness13. Detection of Mitochondrial DNA Variation in Human CellsKim J. Krishnan, John K. Blackwood, Amy K. Reeve, Douglass M. Turnbull, and Robert W. Taylor14. An Introduction to Mitochondrial InformaticsHsueh-Wei Chang, Li-Yeh Chuang, Yu-Huei Cheng, De-Leung Gu, Hurng-Wern Huang, and Cheng-Hong Yang15. Web-Based Analysis of (Epi-) Genome Data Using EpiGRAPH and GalaxyChristoph Bock, Greg Von Kuster, Konstantin Halachev, JamesTaylor, Anton Nek-rutenko, and Thomas Lengauer16. Short Tandem Repeats and Genetic VariationBo Eskerod Madsen, Palle Villesen, and Carsten Wiuf17. Bioinformatic Tools for Identifying Disease Gene and SNP CandidatesSean D. Mooney, Vidhya G. Krishnan, and Uday S. Evani18. Analysis of the Impact of Genetic Variation on Human Gene ExpressionElin Grundberg, Tony Kwan, and Tomi M. Pastinen19. Quality Control for Genome-Wide Association StudiesMichael E. Weale20. Gaining a Pathway Insight into Genetic Association DataInti Pedroso