Parameters for Clinical Exome Sequencing
What are important parameters to be considered for whole exome sequencing for clinical use?
For known clinical significance: you need to screen detected variants against Clinvar database. Clinvar is a experimentally repository of clinically important mutation.
For novel variants: if detected variant is novel, then you can still assessed it’s clinical significance based on several insilico tools, such as SIFT, Polypjen2, Mutation tester, Mutation assessor
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