Reliable variant calling during runtime of Illumina sequencing.

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 combined a novel real-time read mapping algorithm with fast variant calling to obtain reliable variant calls still during the sequencing process. Thereby, our new algorithm allows for accurate read mapping results for intermediate cycles and supports large reference genomes such as the complete human reference. This enables the combination of real-time read mapping results with complex follow-up analysis. In this study, we showed the accuracy and scalability of our approach by applying real-time read mapping and variant calling to seven publicly available human whole exome sequencing datasets. Thereby, up to 89% of all detecte

SUBMITTER: Loka TP 

PROVIDER: S-EPMC6848508 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature