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Article

Design and Reporting Considerations for Genetic Screening Tests.

The Journal of molecular diagnostics : JMD - 1 May 2020

Hagenkord Jill, Funke Birgit, Qian Emily, Hegde Madhuri, Jacobs Kevin B, Ferber Matthew, Lebo Matthew, Buchanan Adam, Bick David

Abstract excerpt

Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities. Protocols to develop screening tests are well established. However, the application of screening principles to inherited diseases presents unique challenges. Unlike most screening tests, the natural history and disease prevalence of most rare inherited diseases in an unselected population are...

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PMID: 32092541
DOI: 10.1016/j.jmoldx.2020.01.014

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