Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

HIGHLIGHTS

SUMMARY

Genome sequencing is particularly valuable in conditions presenting with variable phenotypes or nonspecific clinical features, where the number of contributory genes may be extensive, and can identify noncoding variants and unravel new pathogeneses of disease. An automated pipeline, centered on the use of updateable, crowd-sourced and disease-focused panels (PanelApp) was created by GE for processing, calling, and prioritizing genome sequence variants, and the results were returned to the recruiting GMC to evaluate and potentially validate. The 100kGP allowed access to de-identified clinical and genomic data in the Research Environment to academic . . .

 



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