How can I identify unique or novel mutations in VCF data from whole exome sequencing when no known mutations are present?

10 May 2025 1 7K Report

I am analyzing whole-exome VCF data from individuals with precocious puberty to identify novel or unique variants not previously associated with the condition.

Frederic Lepretre

with the VCF, you can use tools as SIFT (https://sift.bii.a-star.edu.sg) to check the impact of the variants and see if they are known or not.

fred

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Science method

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