FusionCatcher

FusionCatcher identifies somatic fusion genes, translocations, and chimeric transcripts from paired-end RNA-sequencing (RNA-seq) data for human and other vertebrate samples, with primary support for Illumina Next Generation Sequencing (NGS) platforms including Solexa, HiSeq, NextSeq, and MiSeq.

Key Features:

• Input data: Processes paired-end RNA-sequencing (RNA-seq) data from human and other vertebrate samples, explicitly supporting Illumina NGS platforms (Solexa, HiSeq, NextSeq, MiSeq).
• Detection targets: Identifies somatic fusion genes, chromosomal translocations, and chimeric transcripts.
• Novel and known fusions: Detects both novel and previously reported fusion events.
• Signal discrimination: Distinguishes true fusion signals from sequencing background noise to improve detection accuracy.
• Performance claims: Reports competitive detection rates with emphasis on sensitivity and specificity.
• Experimental validation support: Produces results consistent with real-time PCR validation rates.

Scientific Applications:

• Cancer genomics: Detection of somatic fusion genes and translocations associated with cancer.
• Biomarker discovery: Identification of candidate fusion-derived biomarkers for disease diagnosis and prognosis.
• Therapeutic target identification: Prioritization of fusion events as potential targets for therapeutic intervention.
• Genetic basis of disease research: Investigation of chimeric transcripts and fusion events to study disease pathogenesis in vertebrate samples.

Methodology:

Performs comprehensive computational analysis of paired-end RNA-seq data to identify potential fusion events and to distinguish true fusion signals from background noise.