Comprehensive genome analysis and variant detection at scale using DRAGEN.

ABSTRACT: Research and medical genomics require comprehensive, scalable methods for the discovery of novel disease targets, evolutionary drivers and genetic markers with clinical significance. This necessitates a framework to identify all types of variants independent of their size or location. Here we present DRAGEN, which uses multigenome mapping with pangenome references, hardware acceleration and machine learning-based variant detection to provide insights into individual genomes, with ~30 min of computation time from raw reads to variant detection. DRAGEN outperforms current state-of-the-art methods in speed and accuracy across all variant types (single-nucleotide variations, insertions or deletions, short tandem repeats, structural variations and copy number variations) and incorporates specia

SUBMITTER: Behera S 

PROVIDER: S-EPMC12022141 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature