Fig. 2: Strategies for increasing diagnostic yield in rare disease. | npj Genomic Medicine

Fig. 2: Strategies for increasing diagnostic yield in rare disease.

From: International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

Fig. 2

Strategic advancements and methodological innovations are essential for enhancing diagnostic accuracy and overcoming current bottlenecks. Key priority areas include improved ability to rapidly resolve variants of unknown significance (VUS), identification of novel disease genes, advancing informatic capabilities, and overcoming diagnostic challenges with emerging technologies134,135. Created with Biorender.com.

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