Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.

TitleComprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms.
Publication TypeJournal Article
Year of Publication2024
AuthorsBehera, S, Catreux, S, Rossi, M, Truong, S, Huang, Z, Ruehle, M, Visvanath, A, Parnaby, G, Roddey, C, Onuchic, V, Cameron, DL, English, A, Mehtalia, S, Han, J, Mehio, R, Sedlazeck, FJ
Date Published2024 Jan 06

Research and medical genomics require comprehensive and scalable solutions to drive 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 (e.g., SNV/SV) or location (e.g., repeats). Here we present DRAGEN that utilizes novel methods based on multigenomes, hardware acceleration, and machine learning based variant detection to provide novel insights into individual genomes with ~30min computation time (from raw reads to variant detection). DRAGEN outperforms all other state-of-the-art methods in speed and accuracy across all variant types (SNV, indel, STR, SV, CNV) and further incorporates specialized methods to obtain key insights in medically relevant genes (e.g., HLA, SMN, GBA). We showcase DRAGEN across 3,202 genomes and demonstrate its scalability, accuracy, and innovations to further advance the integration of comprehensive genomics for research and medical applications.

Alternate JournalbioRxiv
PubMed ID38260545
PubMed Central IDPMC10802302
Grant ListU01 HG011758 / HG / NHGRI NIH HHS / United States