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IMM Conference Big Data: Professor Søren Brunak

Disease trajectories, time ordered comorbidities and the human genome

A fundamental question in establishing biomarker-phenotype relationships is the basic definition of phenotypic categories. As an alternative to the conventional case-control, single disease model the talk will describe attempts to create phenotyoic categories and patient stratification principles based on longitudinal data covering long periods of time. We carry out temporal analysis of clinical data in a more life-course oriented fashion and use data covering 6-7 million patients from Denmark collected over a 20 year period. We use them to “condense” millions of individual trajectories into a smaller set of recurrent ones. This set of trajectories can be interpreted as re-defined phenotypes representing a temporal diseaseome as opposed to a static one computed from non-directional comorbidities only. As individual variation in human genomes influences pathologies across large parts of the disease spectrum many genomic biomarkers may correlate better with life-long multi-morbidity trajectories that stratify a single condition in comparison to just focusing on the presence/absence of a given disease in question.

Short biography

Søren Brunak, Ph.D., is professor of Disease Systems Biology at the University of Copenhagen and professor of Bioinformatics at the Technical University of Denmark. He is Research Director at the Novo Nordisk Foundation Center for Protein Research at the University of Copenhagen Medical School where he leads a research effort where molecular level systems biology data are combined with the analysis of phenotypic data from the healthcare sector, such as electronic patient records, registry information and biobank questionnaires. A major aim is to understand the network basis for comorbidities and discriminate between treatment related disease correlations and other comorbidities, thereby stratifying patients not only from their genotype, but also phenotypically based on the clinical descriptions in their medical records. Prof. Brunak started work within bioinformatics and machine learning in the mid-1980ies, and was in 1993 the founding Director of the Center for Biological Sequence Analysis at DTU – a major early large scale effort in bioinformatics in Europe. In 2007 he, with Prof. Mattias Mann, was a founding research director of the Center for Protein Research, a center where therapeutic proteins of relevance to human disease is a major focus, including translational aspects of importance to the precision medicine agenda.