Calling Germline SNVs
6 important questions on Calling Germline SNVs
Silent (Synonymous) mutation
Nonsense (truncating) mutation
How to call somatic mutations?
- Higher grades + faster learning
- Never study anything twice
- 100% sure, 100% understanding
But why call germline mutations?
- Genetic predisposition
- If you don't know germline mutations, all mutations are somatic
- Quality check with multiple samples prevents sample swap
- Build noise models that improve somatic calling methods
- Refine compy number calling
What can look like a sample swap?
How to call germline mutations?
The question on the page originate from the summary of the following study material:
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- Never study anything twice again
- Get the grades you hope for
- 100% sure, 100% understanding