broadinstitute / genetic-prevalence-estimator

https://genie.broadinstitute.org/
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Calculate carrier frequency using both simplified and full model #45

Closed nawatts closed 3 years ago

nawatts commented 3 years ago

Carrier frequency is calculated as 2pq, where p is the frequency of the reference allele and q the allele frequency of the alternate allele.

In rare disease research, because q is often very small, p is often simplified to 1, simplifying carrier frequency to 2q.