Reliable variant calling during runtime of Illumina sequencing

Abstract

8The sequential paradigm of data acquisition and analysis in next-generation sequencing 9 leads to high turnaround times for the generation of interpretable results. We designed a 10 workflow using an advanced real-time read mapping approach to obtain reliable variant calls 11 for human whole-exome data still during the sequencing process. When compared to 12 standard routines, our live variant calling approach enables considerably faster interventions 13 in clinical applications such as pathogen characterization and the determination of drug 14 resistances in disease outbreaks or the design of individually tailored vaccines in precision 15 medicine. Besides variant calling, our approach can be adapted for a plethora of other 16 mapping-based analyses. 17