RT Journal Article
SR Electronic
T1 Reliable variant calling during runtime of Illumina sequencing
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 387662
DO 10.1101/387662
A1 Tobias P. Loka
A1 Simon H. Tausch
A1 Bernhard Y. Renard
YR 2018
UL http://biorxiv.org/content/early/2018/08/09/387662.abstract
AB 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.