Title Disease gene identification : methods and protocols / edited by Johanna K. DiStefano

Published New York, NY : Humana Press, ©2011

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Description 1 online resource (xii, 312 pages) : illustrations Series Springer protocols Methods in molecular biology, 1064-3745 ; 700 Springer protocols (Series) Methods in molecular biology (Clifton, N.J.) ; v. 700. 1064-3745 Contents Technological issues and experimental design of gene association studies / J.K. Distefano and D.M. Taverna -- Statistical issues in gene association studies / R.M. Watanabe -- Identification of causal sequence variants of disease in the next generation sequencing era / C.B. Kingsley -- Microarray-based genome-wide association studies using pooled DNA / S. Szelinger, J.V. Pearson and D.W. Craig -- Medium-throughput SNP genotyping using mass spectrometry: Multiplex SNP genotyping using the iPLEX gold assay / M.P. Millis -- Targeted SNP genotyping using the taqman(r) assay / D. Schleinitz, J.K. Distefano and P. Kovacs -- Bar-coded, multiplexed sequencing of targeted DNA regions using the illumina genome analyzer / S. Szelinger, A. Kurdoglu and D.W. Craig -- Site-directed mutagenesis / P.E. Carrigan, P. Ballar and S. Tuzmen -- Gene expression profiling of tissues and cell lines: A dual-color microarray method / S. Shack -- Methods for microrna microarray profiling / A.R. Ranade and G.J. Weiss -- Allelic expression profiling to dissect genome-wide association study signals / J.D. Gruber -- Quantitative polymerase chain reaction using the comparative Cq method / K. Yeatts -- Genomic analysis by oligonucleotide array comparative genomic hybridization utilizing formalin-fixed, paraffin-embedded tissues / S.J. Savage and G. Hostetter -- RNA mapping protocols: Northern blot and amplification of cDNA ends / M.L. Alvarez and M. Nourbakhsh -- High-content RNA interference assay: Analysis of tau hyperphosphorylation as a generic paradigm / R.H. Robeson and T. Dunckley -- Integrative systems biology approaches to identify and prioritize disease and drug candidate genes / V. Kaimal [and others] -- Identification of a common variant affecting human episodic memory performance using a pooled genome-wide association approach: A case study of disease gene identification / T.L. Pawlowski and M.J. Huentelman -- RNAi-based functional pharmacogenomics / S. Tuzmen [and others] -- Genetic predisposition to beta-thalassemia and sickle cell anemia in Turkey: A molecular diagnostic approach / A.N. Basak and S. Tuzmen Summary Recent efforts to characterize genetic variation in the human genome, coupled with the rapidly developing field of genomics, have lead directly to the development of new and innovative approaches to the identification of genes contributing to complex human diseases. In Disease Gene Identification: Methods and Protocols, expert researchers in the field provide up-to-date molecular methodologies used in the process of identifying a disease gene, from the initial stage of study design to the next stage of preliminary locus identification, and ending with stages involved in target characterization and validation. As a volume in the highly successful Methods in Molecular Biology series, chapters contain brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and detailed tips on troubleshooting and avoiding known pitfalls. Authoritative and essential, Disease Gene Identification: Methods and Protocols seeks to aid scientists striving toward the identification and characterization of the many disease-related genes, which may someday pave the way for more accurate and improved methods of disease diagnosis as well as vital strategies for disease treatment and prevention Analysis pathologie pathology geneeskunde medicine biomedische wetenschappen biomedicine humane genetica human genetics Medicine (General) Geneeskunde (algemeen) Bibliography Includes bibliographical references and index Notes English Print version record Subject Medical genetics -- Technique. Genetics -- Technique. Genetic Predisposition to Disease Genetic Techniques Genetics -- Technique Medical genetics -- Technique Form Electronic book Author DiStefano, Johanna K. ISBN 9781617379543 1617379549

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