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020 _a9781617379543
024 7 _a10.1007/978-1-61737-954-3
_2doi
040 _aES-MaUEC
_bspa
_cES-MaUEC
_dES-MaUEC
050 4 _aRB155
_b2011 EB
245 0 0 _aDisease Gene Identification
_b: Methods and Protocols
_cedited by Johanna K. DiStefano
250 _a1st edition 2011
264 1 _aTotowa, NJ
_bHumana Press
_c2011
300 _a1 recurso en línea (XII, 312 páginas)
336 _atexto
_btxt
_2rdacontent
337 _aelectrónico
_bc
_2rdamedia
338 _arecurso electrónico
_bcr
_2rdacarrier
347 _aarchivo de texto
_bPDF
490 0 _aMethods in Molecular Biology
_x1940-6029
_v700
505 0 _aTechnological Issues and Experimental Design of Gene Association Studies -- Statistical Issues in Gene Association Studies -- Identification of Causal Sequence Variants of Disease in the Next Generation Sequencing Era -- Microarray-Based Genome-Wide Association Studies Using Pooled DNA -- Medium-Throughput SNP Genotyping Using Mass Spectrometry: Multiplex SNP Genotyping Using the iPLEX® Gold Assay -- Targeted SNP Genotyping Using the TaqMan Assay -- Bar-Coded, Multiplexed Sequencing of Targeted DNA Regions Using the Illumina Genome Analyzer -- Site-Directed Mutagenesis -- Gene Expression Profiling of Tissues and Cell Lines: A Dual Color Microarray Method -- Methods for microRNA Microarray Profiling -- Allelic Expression Profiling to Dissect Genome-Wide Association Study Signals -- Quantitative Polymerase Chain Reaction: Quantitative PCR Using the Comparative Cq Method -- Genomic Analysis by Oligonucleotide Array Comparative Genomic Hybridization Utilizing Formalin-Fixed Paraffin Embedded Tissues -- RNA Mapping Protocols: Northern-Blot and Amplification of cDNA Ends -- High Content RNA Interference Assay: Analysis of Tau Hyperphosphorylation as a Generic Paradigm -- Integrative Systems Biology Approaches to Identify and Prioritize Disease and Drug Candidate Genes -- Identification of a Common Variant Affecting Human Episodic Memory Performance Using a Pooled Genome-Wide Association Approach: A Case Study of Disease Gene Identification -- RNAi-Based Functional Pharmacogenomics -- Genetic Predisposition to β-Thalassemia and Sickle Cell Anemia in Turkey: A Molecular Diagnostic Approach.
520 _aRecent 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.
988 _aSpringer_Protocols_2011
650 7 _2embne
_9144879
_aGenética médica
776 0 8 _iPrinted edition:
_z9781617379536
776 0 8 _iPrinted edition:
_z9781617379550
776 0 8 _iPrinted edition:
_z9781493961474
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-1-61737-954-3
_zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942 _2lcc
_cLE
998 _b01/2024
_dz
_ean
_zSI