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MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance.

Tiago S SantosLiliana FonsecaSílvia Santos MonteiroDiana Borges DuarteAna Martins LopesAndré Couto de CarvalhoMaria João OliveiraTeresa BorgesFrancisco LaranjeiraMaría Luz CouceMaria Helena Cardoso
Published in: Endocrinology, diabetes & metabolism (2022)
In a highly pre-selected group of probands qualified for genetic testing, the Exeter MODY probability calculator provided a useful tool in individuals' selection for genetic testing, with good discrimination ability under an optimal probability cut-off of 36%. Further geographical and population adjustments are warranted for general use.
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