Language
English
Publication Date
7-1-2025
Journal
Nature Biotechnology
DOI
10.1038/s41587-024-02382-1
PMID
39455800
PMCID
PMC12022141
PubMedCentral® Posted Date
10-25-2024
PubMedCentral® Full Text Version
Post-print
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 specialized methods for analysis of medically relevant genes. We demonstrate the performance of DRAGEN across 3,202 whole-genome sequencing datasets by generating fully genotyped multisample variant call format files and demonstrate its scalability, accuracy and innovation to further advance the integration of comprehensive genomics. Overall, DRAGEN marks a major milestone in sequencing data analysis and will provide insights across various diseases, including Mendelian and rare diseases, with a highly comprehensive and scalable platform.
Keywords
Humans, Genome, Human, Genomics, Software, Genetic Variation, Whole Genome Sequencing, DNA Copy Number Variations, Polymorphism, Single Nucleotide, Machine Learning, Software, Genomics, Computational biology and bioinformatics
Published Open-Access
yes
Recommended Citation
Behera, Sairam; Catreux, Severine; Rossi, Massimiliano; et al., "Comprehensive Genome Analysis and Variant Detection at Scale Using Dragen" (2025). Faculty and Staff Publications. 5105.
https://digitalcommons.library.tmc.edu/baylor_docs/5105
Included in
Genetic Phenomena Commons, Genetic Processes Commons, Genetic Structures Commons, Medical Genetics Commons, Medical Molecular Biology Commons, Medical Specialties Commons