Research Seminar: Species-independent identification of known and novel recurrent genomic entities in multiple cancer patients.

Dr. Jose Izarzugaza, Centre for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark

Tuesday 7th June, 1.00 p.m., Stacey Lecture Theatre 1

 

The discovery of viruses and other disease-causing pathogens from high throughput sequencing data often requires that taxonomic annotation occurs prior to association to disease. Although this bottom-up approach is effective in some cases, it fails to detect novel pathogens and remote variants not present in reference databases. We propose an alternate approach that utilizes sequence clustering for the identification of nucleotide sequences that co-occur across multiple sequencing data instances. Thus, not limited to reported species. We applied the workflow to 686 sequencing libraries from 252 different cancers and 56 controls. We used our pipeline to associate recurrent sequences to the onset of the disease but also to the use of common laboratory kits to identify common methodological or technical artifacts sourcing erroneous conclusions, as we have observed in the recent literature. We provide examples of identified inhabitants of the healthy tissue flora as well as experimental contaminants.