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