Single Nucleotide Polymorphism Analysis by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry
作者： P WHITTAKER , S BUMPSTEAD , K DOWNES , J GHORI , P DELOUKAS
DOI: 10.1016/B978-012164730-8/50176-3
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摘要: Publisher Summary Modern humans as a species have limited amount of genetic variation, most which is attributable to common allelic variants. Any two haploid copies the human genome differ at one site per kilobase on average. A central goal biomedical research identify and characterize functional sequence variants with biochemical phenotypic consequences. The latter makes SNP typing amenable both automation high multiplexing. However, optimal use SNPs markers requires knowledge their distribution between within populations. Two key factors in terms resolution signal-to-noise ratio obtained mass spectra are sample preparation type compound used embed sample, typically small organic molecule that can crystallize. MassArray system from Sequenom, Inc. composed nanodispenser, Brucker Biflex spectrometer, MultiMek. includes an ORACLE database suite software tools for assay design real-time automated genotype calling.
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