Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Eur J Hum Genet · 2021 · PMC7852664 · PMID 32860008

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an increasing trendno p-value reported

When considering recentness, we observed an increasing trend in diagnostic yield over time, with recently tested cases having the highest yield.

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