Construct · 1 fields · 1 citations

Bayesian ACMG/AMP framework: a standalone construct

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Medical genetics

a reformulation of the ACMG/AMP variant rules as a Bayesian classifier in which each evidence strength corresponds to an odds of pathogenicity.

In medical genetics, Bayesian ACMG/AMP framework refers to a reformulation of the ACMG/AMP variant rules as a Bayesian classifier in which each evidence strength corresponds to an odds of pathogenicity. This meaning comes from Tavtigian (2018) in Genetics in Medicine.[1]

Unit
Recovery means
Measured by

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Nearby constructs

evidence2 fields · 4 citationsjingle · one word, two constructs strength4 fields · 6 citationsjingle · one word, four constructs variant3 fields · 5 citationsjingle · one word, three constructs

References

Tavtigian, S. V., Greenblatt, M. S., Harrison, S. M., Nussbaum, R. L., Prabhu, S. A., Boucher, K. M., & Biesecker, L. G. (2018). Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genetics in Medicine, 20(9), 1054-1060. https://doi.org/10.1038/gim.2017.210

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