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

Published Totowa, N.J. : Humana ; London : Springer [distributor], ©2010

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Description 1 online resource (xi, 388 pages) : illustrations Series Methods in molecular biology ; 628 Methods in molecular biology (Clifton, N.J.) ; v. 628. 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 Analysis 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 genetica Bibliography Includes bibliographical references and index Notes English Master and use copy. Digital master created according to Benchmark for Faithful Digital Reproductions of Monographs and Serials, Version 1. Digital Library Federation, December 2002. http://purl.oclc.org/DLF/benchrepro0212 MiAaHDL Print version record digitized 2022. HathiTrust Digital Library committed to preserve pda MiAaHDL In Springer eBooks Subject Variation (Biology) Computational biology. Bioinformatics. Biology. Genetics -- Technique. Life sciences. Genomes. Methodology. Genomics. Human genetics -- Variation. Physical sciences. 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 biology. biological sciences. methodology. physical sciences. Physical sciences Methodology Life sciences Human genetics -- Variation Genomics Genomes Genetics -- Technique Computational biology Biology Bioinformatics Variation (Biology) Genre/Form Laboratory manuals. Manuels de laboratoire. Form Electronic book Author Barnes, Michael R. Breen, Gerome. ISBN 9781603273671 1603273670

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