MALDI-TOF mass spectrometry

Abstract

Major strengths of mass spectrometry analysis include the accuracy of the detection principle, automatic data storage as well as simplicity and flexibility of assay design making it a premier choice for targeted genotyping of sequence variations. We explain the assay principle in detail and give step-by-step laboratory instructions. Finally, references point toward further use of mass spectrometry analysis for molecular haplotyping, re-sequencing, and quantitative analysis for copy number variations and gene expression studies are given. © Springer Science+Business Media, LLC 2013.