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008			180208s2018 xxua o |||| 0|eng d
020			_a9781493974719
024	7		_a10.1007/978-1-4939-7471-9 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRB155 _b2018 EB
245	0	0	_aDisease Gene Identification : _bMethods and Protocols _cedited by Johanna K. DiStefano
250			_a2nd edition 2018
264		1	_aNew York, NY _bSpringer International Publishing _c2018
300			_a1 recurso en línea (X, 400 páginas) _b63 ilustraciones, 50 ilustraciones a color
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 _v1706
505	0		_aIdentification of Disease Susceptibility Alleles in the Next Generation Sequencing Era -- Induced Pluripotent Stem Cells in Disease Modeling and Gene Identification -- Development of Targeted Therapies Based on Gene Modification -- What can we Learn about Human Disease from the Nematode C. elegans? -- Microbiome Sequencing Methods for Studying Human Diseases -- The Emerging Role of Long Noncoding RNAs in Human Disease -- Identification of Disease-related Genes using a Genome-wide Association Study Approach -- Whole Genome Library Construction for Next Generation Sequencing -- Whole Exome Library Construction for Next Generation Sequencing -- Optimized Methodology for the Generation of RNA-sequencing Libraries from Low-input Starting Material: Enabling Analysis of Specialized Cell Types and Clinical Samples -- Using C1 to Generate Single-cell Full-length cDNA Libraries for mRNA Sequencing -- MiSeq: A Next Generation Sequencing Platform for Genomic Analysis -- Methods for CpG Methylation Array Profiling via Bisulfite Conversion -- miRNA Quantification Method using Quantitative Polymerase Chain Reaction in Conjunction with the Cq Method -- Lentiviral--mediated CRISPR--cas9 Gene Editing of Primary Human Airway Epithelial Cells -- RNA Interference to Knockdown Gene Expression -- Using Luciferase Reporter Assays to Identify Functional Variants at Disease-associated Loci -- Physiologic Interpretation of GWAS Signals for type 2 Diabetes -- Identification of Genes for Hereditary Hemochromatosis -- Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) -- The Rise and Fall and Rise of Linkage Analysis as a Technique for Finding and Characterizing Inherited Influences on Disease Expression.
520			_aThis volume presents detailed laboratory procedures in an easy to follow format that can be carried out with success by investigators lacking previous exposure to a specific research method. Chapter guide readers through the application of molecular approaches to disease gene identification and overviews,  and case studies are also presented. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Disease Gene Identification: Methods and Protocols, Second Edition aims to help with the identification and characterization of many more disease-related genes and provide novel, and effective strategies for disease treatment and prevention.
988			_aSpringer_Protocols_2018
650		7	_2embne _9144879 _aGenética médica _vManuales de laboratorio
776	0	8	_iPrinted edition: _z9781493974702
776	0	8	_iPrinted edition: _z9781493974726
776	0	8	_iPrinted edition: _z9781493984961
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-1-4939-7471-9 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b10/2023 _dz _eb _zSI