Illumina Genomics Research

Research on cancers such as acute myeloid leukemia, myelodysplastic syndrome, myeloma, and chronic lymphocytic leukemia has led to major improvements in personalized care. Traditional approaches to testing may include karyotype, FISH (fluorescence in situ hybridization), chromosomal microarray, and gene panels. Whole-genome sequencing can detect all the critical abnormalities and variant types relevant for these conditions with a single workflow.

Our research teams have developed this recipe through a modification in the standard clustering protocol to improve sequencing in difficult-to-read regions. It may be of interest to users who need higher variant calling performance in certain classes of repetitive sequences for research purposes, and we have therefore released it on our Advanced Research Protocols portal.

With the DRAGEN v4.3 release, we introduce the second-generation multigenome mapper. This article discusses the evolution of its methodology using pangenome references and shows the significant accuracy improvement both in the All Benchmark Regions and Difficult-to-Map Regions of the genome, with the second-generation multigenome mapper and the most recent 128-samples pangenome reference.