Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.

Genet Med · 2019 · PMC6752300 · PMID 30100613

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highly significantno p-value reported

All differences were highly significant, with p values ranging from 2.3 × 10 −4 (for “reference reads”) to 2.6 × 10 −28 (for “frequency”) (Fig. 2a ).

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