Illumina Genomics Research

在此，我们推出了更新版的 SMN 与 HBA 靶向分析模块，已于 DRAGEN v4.4 发布；同时提供一套 spike-in 补充 Panel，可与 Illumina DNA Prep with Exome 2.5 Enrichment Panel 组合使用，在 Illumina 外显子组数据中实现精准的 HBA 与 SMN 基因分型。

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.

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.