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TitleGenotyping [electronic resource] : Methods and Protocols
Author edited by Stefan J. White, Stuart Cantsilieris
ImprintNew York, NY : Springer New York : Imprint: Humana Press, 2017
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Descript X, 254 p. 65 illus., 55 illus. in color. online resource


This volume explores a broad range of different genotyping techniques. Genotyping: Methods and Protocols consists of chapters that cover numerous topics such as: an overview of multiplexed microsatellite analysis; High Resolution Melt analysis and TaqMan-based assays; in situ analysis of variants in single RNA molecules; the MassARRAY system and Molecular Inversion Probes; Pulsed Field Gel Electrophoresis, Paralogue Ratio Test, and Multiplex Ligation-Dependent Probe Amplification; long-range PCR combined with PacBio sequencing; Targeted Locus Amplification; Multilocus Sequence Typing and rapid SNP detection with pyrosequencing; and genotyping-by-sequencing for plant analysis. Finally, the volume concludes with a summary of pertinent points to describe genetic variation. 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. Thorough and practical, Genotyping: Methods and Protocols is a valuable resource for anyone interested in learning more about the diverse field of genotyping


Genetic Fingerprinting Using Microsatellite Markers in a Multiplex PCR Reaction: A Compilation of Methodological Approaches from Primer Design to Detection Systems -- Genotyping DNA Variants with High Resolution Melting Analysis -- High-Throughput Genotyping with TaqMan Allelic Discrimination and Allele-Specific Genotyping Assays -- In Situ Single Molecule RNA Genotyping Using Padlock Probes and Rolling Circle Amplification -- The MassARRAY® System for Targeted SNP Genotyping -- Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs) -- Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD -- Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT) -- Genotyping Complex Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA) -- Analysis of Multiallelic CNVs by Emulsion Haplotype Fusion PCR -- Analysis Using Droplet Digital PCR -- Full-Length Mitochondrial-DNA Sequencing on the PacBio RSII and Full-Length MT-DNA RSII -- Targeted Locus Amplification and Next Generation Sequencing -- Efficient, Cost-Effective, High-Throughput, Multilocus Sequencing Typing (MLST) Method, NGMLST, and the Analytical Software Program MLSTEZ -- Rapid SNP Detection and Genotyping of Bacterial Pathogens by Pyrosequencing -- Methods for Genotyping-by-Sequencing.-Describing Sequence Variants Using HGVS Nomenclature

Medicine Human genetics Biomedicine Human Genetics


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