Biomolecular mechanism discovery from omics data: applications from clinical data to natural product chemistry

Penetration of omics technologies, especially genome and mRNA sequencing, combined with new imaging modes into the clinical environment creates unprecedented opportunities for understanding patient-specific aspects of pathogenesis and for designing individualized diagnosis and therapy approaches. Whereas there is great optimism that cost, logistics, infrastructure and data processing issues will be overcome in a close foreseeable future, the missing understanding of biomolecular mechanisms that translate individual genome aberrations and mutations into phenotypes will likely hinder educated, rational individualized intervention for many types of pathologies. To note, most of the human genome (~99%) including about half of the protein-coding regions remain functionally insufficiently or not at all characterized.At the same type, phenomenal progress will be seen when mechanisms are understood. Biomedical data analysis research at the Bioinformatics institute is aimed at contributing to closing this knowledge gap. Prioritizing of patient- and population-specific SNPs provides clues on the individualized pathogenesis and on the emergence of drug resistance. Omics studies of patient tumors are the key to elucidate driver mechanisms and to select efficient therapies if functions of mutated and mis-regulated genes are known. As smaller genomes of microbial and viral infectious pathogens are much better understood than their human counterpart, omics-based diagnoses can efficiently guide public health measures and individualized therapy. As microbes and fungi play a great role in biotechnology, the understanding of their genome-phenotype relationship has great impact on new secondary metabolite and enzyme discovery. Reference: "A decade after the first full human genome sequencing: when will we understand our own genome?" JBCB 2012;10:1271001