Fig. 2: Improved approaches to identifying diagnostic variants in craniosynostosis. | Genetics in Medicine

Fig. 2: Improved approaches to identifying diagnostic variants in craniosynostosis.

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

Fig. 2

Venn diagram classifying each of 16 researcher-identified potential diagnoses (RIPDs) considered diagnostic (excluding variants of uncertain significance [VUS], and those independently found by Genomic Medicine Centres [GMCs]) and 2 additional cases, according to methods that would have identified them.

Back to article page