Exome, IcWGS-based copy number assessment, complete transcriptome & surface protein expression from the same individual cell with ResolveOME®

Katherine A. Kennedy1, Tia A. Tate1, Isai Salas-Gonzalez1, Durga M. Arvapalli1, Swetha D. Velivela1, Jeffry R Marks2, E. Shelley Hwang2, Jay A.A. West1, Victor J. Weigman1 and Jon S. Zawistowski1

1 BioSkryb Genomics Inc, Durham, NC

2 Department of Surgery, Duke University Medical Center, Durham, NC

Ductal carcinoma in situ (DCIS) may progress to invasive ductal carcinoma in 2050% of cases. In 2023, there were an estimated 55,720 new cases of DCIS2 , virtually all of whom have surgery, and whom up to 1/3 of which have a full or partial mastectomy. Unfortunately, well defined markers of progression have thus far failed to be elucidated, likely due to the degree of ‘normal’ tissue in DCIS lesions

Single cell multi-omic analysis that is unified at the single cell level, may allow translational scientists to identify actionable, functional targets offering better prognostic evaluations. Importantly, such workflows must be sufficiently cost effective in order to be scientifically and clinically useful.

In this study, we assess greater than 900 cells across 12 primary tumor samples, harvested by the Surgery Department and Duke University at the single cell level. Unified multi-omic findings highlight tumor heterogeneity within and between samples at the genomic, transcriptomic and proteomic levels.