Genetic variation : methods and protocols / edited by Michael R. Barnes, Gerome Breen.

Contributor(s): Barnes, Michael R | Breen, Gerome
Material type: TextTextSeries: Methods in molecular biology (Clifton, N.J.): v. 628.Publisher: Totowa, N.J. : London : Humana ; Springer [distributor], ©2010Description: 1 online resource (xi, 388 pages) : illustrationsContent type: text Media type: computer Carrier type: online resourceISBN: 9781603273671; 1603273670Subject(s): Variation (Biology) | Genetic Structures | Computational Biology | Biology | Genetic Phenomena | Investigative Techniques | Sequence Analysis | Genetic Techniques | Analytical, Diagnostic and Therapeutic Techniques and Equipment | Biological Science Disciplines | Phenomena and Processes | Genome | Methods | Sequence Analysis, DNA | Genomics | Genetic Variation | Natural Science Disciplines | Disciplines and Occupations | Genetics | Variation (Biology) | Biology | Health & Biological Sciences | Evolution | moleculaire genetica | molecular genetics | humane ziekten | human diseases | genetische diversiteit | genetic diversity | mens | man | geneeskunde | medicine | genetische polymorfie | genetic polymorphism | ziektemerkers | disease markers | biologische technieken | biological techniques | humane genetica | human genetics | protocollen | protocols | Molecular Genetics | Moleculaire geneticaGenre/Form: Electronic books. Additional physical formats: Print version:: Genetic variation.DDC classification: 576.54 LOC classification: QH401 | .G46 2009Online resources: Click here to access online
Contents:
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.
Summary: 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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Includes bibliographical references and index.

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.

Print version record.

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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