Genomics Articles

Recent genomic discoveries and advances

Genomics articles highlighting breakthroughs and advances in bioinformatics and clinical research from Illumina scientists and thought leaders

Discoveries by Illumina Scientists

Introducing constellation mapped read technology

Constellation technology utilizes a highly simplified NGS workflow that enables on-flow-cell library prep that completely eliminates standard library prep prior to sequencing. Standard cluster generation and SBS sequencing is combined with cluster proximity information in DRAGEN algorithms to unlock long-distance information. Early testing demonstrates enhanced mapping of challenging genomic regions, ultra-long phasing, and improved detection of large structural rearrangements.

Applications of whole-genome sequencing in hematologic malignancies: Evaluating myeloid and lymphoid cancers in the Genome Era

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.

Introducing the HP Advanced Custom Recipe for NextSeq 1000/2000 XLEAP-SBS P3 and P4 300 cycle kits

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.