What are important parameters to be considered for whole exome sequencing for clinical use?

04 July 2017 1 4K Report

For clinical significance, what are the parameters should I consider for sequencing a sample. For example terms like High read depth

Mohammed Inayatullah

Hello,

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 etc.

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