Abstract

The question how genetic variability is translated into phenotypes is fundamental in biology and medicine. Powerful genomic technologies now determine genetic variability at a genomic level and at unprecedented speed, accuracy and (low) cost. To date the effects of genomic variability on the expressed information of the cell has been mainly studied by transcript profiling. In this presentation we will discuss emerging computational and quantitative proteomic technologies to relate genotypic variation to the proteome. Proteomic data to support such correlations need to be quantitatively accurate, highly reproducible across multiple measurements and samples and generable at high throughput. Data with these qualities can now be generated by the targeted proteomic methods selected reaction monitoring (SRM) and, at higher throughput, by SWATH‐MS. We will discuss the principles of these mass spectrometric methods, discuss the computational challenged they pose for data analysis and demonstrate with selected applications their ability to determine the effect of genetic variability on the quantitative proteome.

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