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We investigated whether current recommendations to address ethical issues in GDR suffice when GDR studies are original studies recruiting individuals from whom genetic information is available through, for example, health care medical records or health records from DTC genetic testing services.

From Fig. 5, it is possible to define a single evaluation metric for a complete comparison (for instance, in evaluation campaigns, etc)., such as, for example, a (weighted) average of the areas under the GDR, sensitivity, specificity, and precision curves up to 3 FD/h.

In particular, we focus on the ethical and societal implications of recruiting individuals in original GDR studies because genetic information about them is known or available through, for example, health care medical records or health records from Direct-to-Consumer (DTC) genetic testing services.

For example, our system with MAF = 15 and collar = ∼3 m will achieve 95% of GDR at 0.66 FD/h (Fig. 3), although we know that it will be done at the expense of longer false detection durations (∼12 min) which is not optimal for clinical use.

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