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" Genetic variation : "
edited by Michael R. Barnes, Gerome Breen.
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BL
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| Record Number
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1039740
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b794110
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| Title & Author
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Genetic variation : : methods and protocols /\ edited by Michael R. Barnes, Gerome Breen.
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| Publication Statement
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Totowa, N.J. :: Humana ;London :: Springer [distributor],, ©2010.
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| Series Statement
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Methods in molecular biology ;; 628
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1 online resource (xi, 388 pages) :: illustrations
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| ISBN
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1603273670
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: 9781603273671
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1603273662
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9781603273664
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| Bibliographies/Indexes
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Includes bibliographical references and index.
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| Contents
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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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| Abstract
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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.
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Variation (Biology)
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Analytical, Diagnostic and Therapeutic Techniques and Equipment
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Biological Science Disciplines.
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Biology.
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Computational Biology.
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Disciplines and Occupations
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Genetic Phenomena.
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Genetic Structures.
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Genetic Techniques.
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Genetic Variation.
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Genetics.
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Genome.
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Genomics.
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Investigative Techniques
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Methods.
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Natural Science Disciplines.
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Phenomena and Processes
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Sequence Analysis, DNA.
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Sequence Analysis.
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Biology.
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Evolution.
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Health Biological Sciences.
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Variation (Biology)
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| Dewey Classification
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576.54
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| LC Classification
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QH401.G46 2009
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| NLM classification
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QU 25
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| Added Entry
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Barnes, Michael R.
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Breen, Gerome.
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