Illumina Inc. has unveiled DRAGEN™ v4.3, the latest iteration of its DRAGEN™ software, designed for next-generation sequencing data analysis. Rami Mehio, head of Software & Informatics at Illumina, expressed excitement about the release, highlighting its significant enhancements and additions. DRAGEN v4.3 boasts next-generation multigenome mapping technology, mosaic calling, advancements in machine learning, and improved genotyping capabilities, aimed at empowering researchers and geneticists to extract maximum value from genomic data.
One of the key features of DRAGEN v4.3 is its multigenome mapping capability, aligning with the efforts of the Human Pangenome Reference Consortium (HPRC). This collaboration aims to provide high-quality genome assemblies from diverse ancestries, contributing to a reference human pangenome. DRAGEN users can now leverage the 47 high-quality assemblies provided by the HPRC, selecting specific ancestries to enhance multigenome mapping.
Benedict Paten, co-lead of the HPRC, emphasized the substantial accuracy improvement over traditional mapping methods, which is expected to further enhance with the incorporation of additional assemblies into the pangenome.
DRAGEN v4.3 introduces industry-leading innovations, including next-generation multigenome mapping with 128 samples, a machine learning mosaic model for precise variant calling, and a new family of specialized callers for comprehensive genotyping of challenging genes. Furthermore, AI-powered annotations enhance variant interpretation by leveraging advanced algorithms and deep-learning networks.
Clinical validation by Broad Clinical Labs reaffirms the accuracy and efficiency of DRAGEN v4.3, particularly in variant calling and mosaic evaluation. Marina DiStefano, associate lab director at Broad Clinical Labs, expressed satisfaction with the tool's performance, emphasizing its utility in clinical whole-genome research.
DRAGEN is recognized as a leading secondary analysis software in the genomics market, setting standards for accuracy, comprehensiveness, and efficiency. Its versatility, available across various deployment options, from standalone servers to cloud solutions and select sequencers, streamlines data acquisition and analysis processes.
With DRAGEN v4.3, Illumina continues to drive innovation in genomic data analysis, empowering researchers to unlock deeper insights into the human genome with enhanced power, accuracy, and efficiency.