Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.

摘要: The beginning of this millennium has seen dramatic advances in genomic research. Milestones such as the complete sequencing human genome and many other species were achieved complemented by systematic discovery variation at single nucleotide (SNP) whole segment (copy number polymorphism) level. Currently most genomics research efforts are concentrated on production functional annotations, well mapping epigenome identifying methylation status CpGs, mainly CpG islands, different tissues. These recent have a major impact way genetic is conducted accelerated factors contributing to disease. Technology was critical driving force behind projects: both combination Sanger with high-throughput capillary electrophoresis rapid microarray technologies keys success. MALDI-TOF MS–based analysis represents relative newcomer field. Can it establish itself long-term contributor genetics research, or only suitable for niche areas laboratories passion mass spectrometry? In review, we will highlight potential tools resequencing epigenetics applications, classical complex studies, allele quantification, quantitative gene expression analysis. We also identify current limitations approach attempt place context technologies.