Article
Comprehensive genome analysis and variant detection at scale using DRAGEN.
Nature biotechnology - 1 Jul 2025
Behera Sairam, Catreux Severine, Rossi Massimiliano, Truong Sean, Huang Zhuoyi, Ruehle Michael, Visvanath Arun, Parnaby Gavin, Roddey Cooper, Onuchic Vitor, Finocchio Andrea, Cameron Daniel L, English Adam, Mehtalia Shyamal, Han James, Mehio Rami, Sedlazeck Fritz J
Abstract excerpt
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...
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