Genetic Variation (eBook, PDF)

Methods and Protocols
Redaktion: Barnes, Michael R.; Breen, Gerome

• Format: PDF

Produktbeschreibung

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(TM) 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.

---

Dieser Download kann aus rechtlichen Gründen nur mit Rechnungsadresse in A, B, BG, CY, CZ, D, DK, EW, E, FIN, F, GR, HR, H, IRL, I, LT, L, LR, M, NL, PL, P, R, S, SLO, SK ausgeliefert werden.

Produktdetails

• Verlag: Humana Press
• Seitenzahl: 388
• Erscheinungstermin: 17. März 2010
• Englisch
• ISBN-13: 9781603273671
• Artikelnr.: 64692020

Inhaltsangabe

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.

Rezensionen

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)