Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS.

ABSTRACT:

Background

Gene fusions are important cancer drivers in pediatric cancer and their accurate detection is essential for diagnosis and treatment. Clinical decision-making requires high confidence and precision of detection. Recent developments show RNA sequencing (RNA-seq) is promising for genome-wide detection of fusion products but hindered by many false positives that require extensive manual curation and impede discovery of pathogenic fusions.

Methods

We developed Fusion-sq to overcome existing disadvantages of detecting gene fusions. Fusion-sq integrates and "fuses" evidence from RNA-seq and whole genome sequencing (WGS) using intron-exon gene structure to identify tumor-specific protein coding gene fusions. Fusion-sq was then applied to the data generated from a pediatri

SUBMITTER: van Belzen IAEM 

PROVIDER: S-EPMC10318758 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature