Illumina 基因组学研究

The Illumina 5-base solution provides a streamlined, end-to-end NGS library prep and analysis workflow for simultaneous methylation profiling and high-accuracy genetic variant calling.

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.