Diversity of U1 Small Nuclear RNAs and Diagnostic Methods for Their Mutations.

ABSTRACT: U1 small nuclear RNA (snRNA) mutations are recurrent non-coding alterations found in various malignancies, yet their identification has proven challenging due to their repetitive nature. We characterized the complex interindividual diversity and genomic architecture of U1 snRNA loci using sequencing data and a pangenome reference. Our analysis uncovered copy number variations and the diversity of single-nucleotide variants in regions not predicted to have significant functional impact. Compared to traditional linear reference-based analyses for mutations, the pangenome graph demonstrated the best accuracy, successfully identifying previously undetectable mutations. This underscores the utility of pangenome graph references for cancer genome research, particularly in repetitive and highly d

SUBMITTER: Nakashima T 

PROVIDER: S-EPMC12317402 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature