Dr. Elizabeth Louie’s presentation explores how multiomics approaches—integrating genomics, epigenomics, transcriptomics, proteomics, and metabolomics—can be leveraged to maximize insights from limited biological samples. Delivered under Azenta Life Sciences (formerly GENEWIZ), the talk emphasizes the strategic planning needed to fully exploit samples using advanced sequencing and profiling technologies.
The presentation begins by framing the significance of molecular biomarkers in understanding disease mechanisms, particularly through genetic, transcriptomic, and protein-level data. Dr. Louie underscores that selecting the right assays depends heavily on sample quality and availability and encourages early planning to allow flexibility in downstream multiomic analysis.
Dr. Louie reviews various assay options: whole genome and exome sequencing, methylation profiling (e.g., bisulfite, enzymatic), and chromatin accessibility techniques like ATAC-Seq. For transcriptomics, she discusses bulk RNA-Seq, low-input options, long-read isoform detection, and degraded-sample strategies like targeted RNA exome sequencing. For single-cell and spatial transcriptomics, 10X Genomics workflows are highlighted, including fixed and fresh sample capabilities. Proteomics is covered via the highly sensitive Olink platform, chosen for its low sample input requirements and scalability.
A core element of the talk is a case study involving blood samples from 10 donors (five were known to have cardiovascular disease and five were supposedly healthy). Initial targeted assays (e.g., methylation, exome sequencing, and Olink's 92-protein panel) yielded limited differential insights. However, a revised, more comprehensive strategy—adding bulk RNA-Seq, broader proteomics (Olink HT and SEER), and metabolomics—uncovered over 100 differentially expressed molecules and highlighted 13 dysregulated pathways. This demonstrated the value of not limiting studies to narrow hypotheses or small assay panels, especially when sample storage and preparation allow later expansion.
Key takeaways from this presentation include the importance of thoughtful study design, leveraging sensitive multiomic platforms, and remaining open to exploratory data collection to discover unexpected biomarkers. Dr. Louie concludes by reiterating Azenta/GENEWIZ’s global capabilities and encouraging researchers to plan assays flexibly to maximize research value from precious samples.