CNV Spike In Training Flashcards
(14 cards)
What is the CNV spike-in panel used in combination with?
The Exome 2.0 panel
What are CNV’s?
large rearrangements of chromosomes which can drive the underlying cause of disease.
Is exome seq only, limited?
Yes. Can call some CNV’s but the resolution is limited.
Can you give an example of CNV’s
Yes, think of the following as the “controls”-
A,B,C,D
Now, this would be a deletion: A,C,D
This would be a duplication: A,B,B,C,D
This would be an inversion: A,C,B,D
This would be an insertion: A,E,B,C,D
All of these are keys to disease management
How does Twist do “spike ins”?
Twist has designed probes that are placed in “SNP” sites and called “Spike ins” and are basically added to the exome to cover a CNV event.
What are some benefits to this?
- Added on to standard exome- Mixed in 1:1 w/ exome panel.
- Cost is set low. Higher resolution and add-on
- ideal to sell entire workflow solution, from library prep to hyb reagents.
- CNV spike-in panel fills in regions by placing probes over SNP’s. Allows for better coverage and “calling” of CNV’s
What are some bioinformatics solutions that Twist offers for CNV calling?
- enGenome
- Golden Helix
- SeqOne
- Qiagen digital insights
What diseases are known to be associated with CNV’s?
- cancer
-Neurodevelopmental diesease - Mandelin disorders
What is the limitation of standard exome seq when detecting CNV’s?
it has gaps in read coverage between genes.
What is the purpose of the CNV backbone “spike in” panels?
to fill coverage gaps in intergenic regions
which of the following resolutions is not available for the CNV backbone spike-in panels?
75kb
How much additional sequencing cost does the CNV panel typically add to a standard hyb reaction when blended at a 1:1 ratio w/ Exome 2.0?
1-2%
what is a key strategy for the CNV spike-in panel?
position it as part of the full Twist workflow and exome panels.
which company was not listed as a partner offering bfx support for CNV calling?
ThermoFisher
