Genetic Variation

In this book, expert researchers address the rising importance of genome variation, both at the level of the individual and in population-based studies of disease. The contributions cover a majority of the most important forms of genetic variation.

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.

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

Klappentext

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.

Inhalt
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.