"Comprehensive genome analysis and variant detection at scale using DRAGEN"

"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 specialized methods for analysis of medically relevant genes."

"In addition to the clear improvements of DRAGEN for [single nucleotide variants] SNVs (Fig. 2b,c), DRAGEN’s performance across SVs (>50 bp) was also improved. The DRAGEN results were compared to SV calls reported by Manta24 , Delly47 and Lumpy48 (Fig. 2d,e and Methods). For insertions, which are often the hardest for SV callers7, DRAGEN achieved an F-measure of 76.90%, which more than doubled the performance of Manta (34.90%) and Delly (4.70%; Lumpy did not report any insertions). This is due to multiple algorithmic innovations in DRAGEN (Supplementary Information)."

https://www.nature.com/articles/s41587-024-02382-1