A comprehensive long-read isoform analysis platform and sequencing resource for breast cancer.

ABSTRACT: Tumors display widespread transcriptome alterations, but the full repertoire of isoform-level alternative splicing in cancer is unknown. We developed a long-read (LR) RNA sequencing and analytical platform that identifies and annotates full-length isoforms and infers tumor-specific splicing events. Application of this platform to breast cancer samples identifies thousands of previously unannotated isoforms; ~30% affect protein coding exons and are predicted to alter protein localization and function. We performed extensive cross-validation with -omics datasets to support transcription and translation of novel isoforms. We identified 3059 breast tumor–specific splicing events, including 35 that are significantly associated with patient survival. Of these, 21 are absent from GENCODE and 10 a

SUBMITTER: Veiga DFT 

PROVIDER: S-EPMC8769553 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature