Clinical implications of recent advances in proteogenomics

ABSTRACT Proteogenomics, the alliance of proteomics, transcriptomics, genomics and bioinformatics, was first proposed for refining genome annotation using experimental data acquired on gene products. With high-throughput analysis of proteins made possible with next-generation tandem mass spectrometers, proteogenomics is greatly improving human genome annotation per se, and is helping to decrypt the numerous gene and protein modifications occurring during development, aging, illness and cancer progression. Further efforts are required to obtain a comprehensive picture of human genes, their products, functions, and drift over time or in reaction to microbiota and pathogen stimuli. This should be performed not only to obtain a general overview of the human population, but also to gain specific information at the individual level. This review focuses on the clinical implications of proteogenomics: novel biological insights into fundamental biology, better characterization of pathogens and parasites, discovery of novel diagnostic approaches for cancer, and personalized medicine.