A study aimed to identify rare oncogenic driver events in hematologic malignancies by analyzing a large dataset of whole genome and RNA sequencing from 3,760 patients across 24 disease types.
The research utilized advanced techniques like the DROP pipeline and machine learning to pinpoint expression and splicing outliers, discovering a median of seven expression outlier genes and significant enrichment for known driver genes in their findings.
Notably, the study identified LRP1B, a previously underexplored gene, as a potential new marker for hairy cell leukemia variant (HCL-V), indicating its significance in understanding this specific cancer type.
Transposon screens are powerful in vivo assays used to identify loci driving carcinogenesis. These loci are identified as Common Insertion Sites (CISs), i.e.