Article

A framework evaluating the utility of multi-gene, multi-disease population-based panel testing that accounts for uncertainty in penetrance estimates

2022-08-13

Abstract excerpt

Panel germline testing allows for efficient detection of deleterious variants for multiple conditions, but the benefits and harms of identifying these variants are not always well-understood. We present a multi-gene, multi-disease aggregate utility formula that allows the user to consider adding or removing each gene in a panel based on variant frequency; estimated penetrances; and subjective disutilities for test...

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Literature Corpus work: a7f5c44a-2f8f-5800-98bc-87bbbcef432b
DOI: 10.1101/2022.08.10.503415

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A framework evaluating the utility of multi-gene, multi-disease population-based panel testing that accounts for uncertainty in penetrance estimatesDOI 10.1101/2022.08.10.503415Read

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