Genetic variation analysis for biomedical researchers: a primer / M.R. Barnes -- Exploring the landscape of the genome / M.R. Barnes -- Asking complex questions of the genome without programming / P.M. Woollard -- Laboratory methods for the detection of chromosomal abnormalities / J. Schoumans and C. Ruivenkamp -- Cancer genome analysis informatics / I.P. Barrett -- Copy number variations in the human genome and strategies for analysis / E.A. Vucic [and others] -- A short primer on the functional analysis of copy number variation for biomedical scientists / M.R. Barnes and G. Breen -- Computational methods for the analysis of primate mobile elements / R. Cordaux [and others] -- Laboratory methods for the analysis of primate mobile elements / D.A. Ray [and others] -- Practical informatics approaches to microsatellite and variable number tandem repeat analysis / G. Breen -- Assessing the impact of genetic variation on transcriptional regulation in vitro / F.R. Ali, K. Haddley and J.P. Quinn -- Whole genome sequencing / P.C. Ng and E.F. Kirkness -- Detection of mitochondrial DNA variation in human cells / K.J. Krishnan [and others] -- An introduction to mitochondrial informatics / H.W. Chang [and others] -- Web-based analysis of (Epi- ) genome data using EpiGRAPH and Galaxy / C. Bock [and others] -- Short tandem repeats and genetic variation / B.E. Madsen, P. Villesen and C. Wiuf -- Bioinformatic tools for identifying disease gene and SNP candidates / S.D. Mooney, V.G. Krishnan and U.S. Evani -- Analysis of the impact of genetic variation on human gene expression / E. Grundberg, T. Kwan and T.M. Pastinen -- Quality control for genome-wide association studies / M.E. Weale -- Gaining a pathway insight into genetic association data / I. Pedroso.
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SUMMARY OR ABSTRACT
Text of Note
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.
ACQUISITION INFORMATION NOTE
Source for Acquisition/Subscription Address
Springer
Stock Number
978-1-60327-366-4
OTHER EDITION IN ANOTHER MEDIUM
Title
Genetic variation.
International Standard Book Number
1603273662
TOPICAL NAME USED AS SUBJECT
Variation (Biology)
Analytical, Diagnostic and Therapeutic Techniques and Equipment