Gene Fusion Evaluation

An educational illustration featuring DNA strands, gene fusion concepts, and laboratory equipment, depicting the theme of molecular genetics and bioinformatics.

Gene Fusion Knowledge Quiz

Test your understanding of gene fusion with our engaging quiz designed for biology enthusiasts and professionals alike. Explore key concepts, detection methods, and the latest kits available for gene fusion analysis.

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Designed for students, educators, and researchers
Evaluate your knowledge and learn as you go
Multiple-choice questions for an interactive experience

6 Questions2 MinutesCreated by ExploringGenes42

What are gene fusion?

A gene fusion event is a result of DNA rearrangement between two previously different DNA locations. It can be balanced (a translocation, an insertion or an inversion) or unbalanced (deletion)

A fusion gene is an mRNA rearrangement between 2 exons of a single gene

A fusion gene is a big deletion occurring in a gene coding for membrane fusion protein

A fusion gene is a mRNA rearrangement that only occurs during the transcription, therefore the only option to detect it is to do RNA-Sequencing.

Which kits do we now offer to detect Gene fusions?

All Archer Dx – FusionPlex kits without restriction

Archer Dx - FusionPlex CTL kit

Illumina - TruSight RNA Fusion kit

Quandx - Leukemia Fusion Genes (Q30) Screening kit

How can we detect unknown fusion partners with the kit?

A gene specific primer (GSP1) is targeting the gene of interest and the second primer is a universal primer that will bind to the universal adapter sequence previously ligated to any DNA fragment.

Two GSP1 primers bind to the targeted genes and only produce an amplification product in the present of a gene fusion.

All primers used are universal primers binding to the adapter sequences

We can't. With this technology we detect only already known breakpoints.

What kind of reads support gene fusions? Reminder: There is 3 possible types of reads : - Split reads : they bind to gene A or gene B but don’t give any information if the 2 genes are connected - Span reads : align partially to gene A and gene B. - Reads that align to the gene that doesn’t contain the GSP1 primer binding sequence

Span reads and split reads

Only Span reads

Span reads + Reads that align to the gene that doesn’t contain the GSP1 primer binding sequence

Only Split reads

What does %Molecules mean in SOPHiA DDM?

Number of supporting reads divided by the number of all reads that align in gene A and B

Number of span reads divided by the number of split reads

Number of split reads divided by total reads of the sequencing run.

Number of span reads divided by all the molecules found in the biopsy

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