The vast majority of epithelial cells showed several CNV events, indicating malignancy and distinguishing them from normal epithelial cells (Fig. 2B, Supplimentary Fig. 2B). We further classified malignant cells as either basal or classical based on their Moffitt subtype signature expression7. (Any...
For the scATAC-seq data, we used this integrated PBMC reference to predict cell types. A gene activity matrix was first estimated, and label transfer was performed by assigning query cells based on the local neighborhood around each anchor in the integrated reference, with the highest scoring cel...
Erectile dysfunction (ED) is a common and difficult to treat disease, and has a high incidence rate worldwide. As a marker of vascular disease, ED usually occurs in cardiovascular disease, 2–5 years prior to cardiovascular disease events. The extra
a total of 139,446 cells were retained for analysis. Unsupervised, graph-based clustering and visualization via uniform manifold approximation and projection (UMAP) revealed ten distinct cell clusters that were annotated using canonical markers and gene expression profiles (Fig.1C, D, Supplimentary...
(d) Sanger sequencing confirmed the splicing events predicted by the Iso-Seq data. total of 2,432 variants (2,357 SNVs and 75 indels) in HX1 were documented in ClinVar24, including 20 variants that were classified as 'pathogenic'. However, a simple allele frequency filter with manual ...
(4) fusions between adjacent genes were rejected as read-through transcript events, with a minimum distance of 100 kb; (5) finally, we considered a read to support a fusion if it mapped to both sides of breakpoint by at least a minimum fusion anchor length of 25 bp, or generally about...
5mC/C is facilitated by the presence of vicinal m6A methylation. This method is applicable for the comprehensive analysis of methylation site detection in the epitranscriptome, which will be useful for understanding these methylation events and their mechanisms, ushering in a new era in RNA biology...