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"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.
Sommario
Genetic Variation Analysis for Biomedical Researchers: A Primer.- Exploring the Landscape of the Genome.- Asking Complex Questions of the Genome Without Programming.- Laboratory Methods for the Detection of Chromosomal Abnormalities.- Cancer Genome Analysis Informatics.- Copy Number Variations in the Human Genome and Strategies for Analysis.- A Short Primer on the Functional Analysis of Copy Number Variation for Biomedical Scientists.- Computational Methods for the Analysis of Primate Mobile Elements.- Laboratory Methods for the Analysis of Primate Mobile Elements.- Practical Informatics Approaches to Microsatellite and Variable Number Tandem Repeat Analysis.- Assessing the Impact of Genetic Variation on Transcriptional Regulation In Vitro.- Whole Genome Sequencing.- Detection of Mitochondrial DNA Variation in Human Cells.- An Introduction to Mitochondrial Informatics.- Web-Based Analysis of (Epi-) Genome Data Using EpiGRAPH and Galaxy.- Short Tandem Repeats and Genetic Variation.- Bioinformatic Tools for Identifying Disease Gene and SNP Candidates.- Analysis of the Impact of Genetic Variation on Human Gene Expression.- Quality Control for Genome-Wide Association Studies.- Gaining a Pathway Insight into Genetic Association Data.
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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)
