A de novo assembly based fusion gene detection concept based on DNA-seq data of 100 Ewing sarcoma cases.

ABSTRACT: Ewing sarcoma refers to a family of bone tumors primarily characterized by various fusion gene types, with EWSR1-FLI1 being the most common. These fusion genes lead to the development of tumors growth over time. While most fusion gene detection tools rely on RNA-based data, few utilize genomic data. Existing methodologies face challenges in sensitivity and accuracy of detection. To improve genomic understanding, a novel de novo assembly-based analysis tool, DenovoFusion, was developed. DenovoFusion is a specialized tool designed to detect DNA-level chimeric events and address current limitations in accurate breakpoint identification. The complex fusion detection pipeline includes contig assembly, alignment, and realignment steps that can be customized to the user's needs, focusing on ident

SUBMITTER: Zhao X 

PROVIDER: S-EPMC12907023 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature