Press release
Illumina DRAGEN™ 4.2 delivers most accurate and comprehensive coverage of the genome, powering greater applications and discovery
2023 marks five years of industry-leading DRAGEN software offered by Illumina SAN DIEGO, July 11, 2023 /PRNewswire/ -- Illumina Inc. (NASDAQ: ILMN), a global
About this update from Illumina, Inc.
[{"type":"text","content":"2023 marks five years of industry-leading DRAGEN software offered by Illumina\nSAN DIEGO, July 11, 2023 /PRNewswire/ -- Illumina Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced the launch of the latest version of DRAGEN™ software for analysis of next-generation sequencing data. DRAGEN 4.2 expands award-winning accuracy combined with its renowned flexibility and scalability to enable efficient workflows and extract meaningful insights from genomic data.\n\n \n \n \n \n \n \n\n \n\"DRAGEN 4.2 continues to push the boundaries of accuracy and comprehensiveness for secondary analysis,\" said Rami Mehio, vice president of Software and Informatics at Illumina. \"As we pass DRAGEN's fifth year at Illumina, we see rapid adoption of genomics in clinical settings, precision medicine and research. DRAGEN, with its ability to perform high quality, fast, accurate and comprehensive NGS analysis workflows, is ideally suited to support the healthcare and research industry in these endeavors. Our commitment to continuously and comprehensively improve the detection and interpretation of variations throughout the genome supports the community in its understanding of human health.\"\nDRAGEN v4.2 improves identification of genetic disease causes, drug discovery and population genomics with:\nImproved machine learning algorithms for greater sensitivity and precision of variant calls.New High Sensitivity mode for SNV caller, to detect Mosaic variants, i.e. variants with low allele frequency, and variants in difficult to map segmental duplicationsExpanded Multigenome graph to 32 global samples, greatly improving accuracy for ethnically diverse samples.Major accuracy improvements for small CNVs less than 10kbSupport for the new telomere-to-telomere CHM13v2.0 reference, the first complete, gapless human genomeFour new targeted callers, LPA, HBA, CYP21A2, and RH, enabling further discoveries in genetic diseases, carrier screening, and blood typingMore features detailed in the product launch blog.Among the latest features, new targeted callers are expanding cardiovascular and blood typing capabilities. This potential was noted by Fritz Sedlazeck at the Human Genome Sequencing Center at Baylor College of Medicine in Houston, an early access partner for DRAGEN 4.2. \n\"DRAGEN 4.2 is a significant leap forwa...