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Related Concept Videos

Tagging and Fusion Proteins01:24

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Proteins are involved in several cellular processes and biochemical reactions. Analyzing a specific protein of interest requires it to be isolated from the other proteins in the cell. This is achieved by overexpressing the specific gene in a suitable host to produce large quantities of the target protein. A tag or label is recombined with the gene to produce a fusion protein containing the target protein and the tag. The tags on these fusion proteins can then be used for easy detection and...
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Related Experiment Video

Updated: Apr 11, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
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JAFFA: High sensitivity transcriptome-focused fusion gene detection.

Nadia M Davidson1, Ian J Majewski2, Alicia Oshlack3

  • 1Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052 Australia.

Genome Medicine
|May 29, 2015
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Summary
This summary is machine-generated.

Genomic instability in cancer involves fusion genes. JAFFA, a RNA sequencing tool, accurately detects these fusion genes using long reads or assembled short reads for better cancer transcriptome profiling.

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Area of Science:

  • Oncology
  • Bioinformatics
  • Genomics

Background:

  • Genomic instability is a key characteristic of cancer, frequently leading to structural alterations and fusion genes.
  • RNA sequencing (RNA-Seq) is crucial for cancer profiling, but existing fusion gene detection methods are optimized for short reads.
  • Fusion genes play a significant role in cancer development and progression.

Purpose of the Study:

  • To introduce JAFFA, a novel method for sensitive fusion gene detection in cancer transcriptomes.
  • To demonstrate JAFFA's superior performance with longer sequencing reads (100 bp or greater).
  • To provide an alternative approach for fusion gene identification by analyzing the cancer transcriptome.

Main Methods:

  • JAFFA compares the cancer transcriptome to a reference transcriptome.
  • The cancer transcriptome is inferred either directly from long reads or by de novo assembly of short reads.
  • The method is optimized for RNA sequencing data with reads of 100 bp or greater.

Main Results:

  • JAFFA exhibits higher sensitivity in detecting fusion genes compared to existing methods, particularly with longer reads.
  • The tool effectively identifies fusion genes by analyzing transcriptomic data.
  • JAFFA's approach of transcriptome comparison aids in accurate fusion gene discovery.

Conclusions:

  • JAFFA is a sensitive and effective tool for detecting fusion genes in cancer.
  • The method offers improved performance for RNA sequencing data with longer reads.
  • JAFFA provides a valuable approach for cancer transcriptome profiling and understanding genomic alterations.