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[Preprint]. 2024 Nov 20:2024.11.19.24317561. [Version 1] doi: 10.1101/2024.11.19.24317561

Figure 2. SD-GCEP Curation Evidence.

Figure 2.

Figure 2.

(A) The number of points awarded for genetic and experimental evidence for each gene represented by the bar height (blue = genetic evidence; green = experimental evidence). GDRs where no animal model was available are starred. (B) The majority of genes (82%) had an animal model with 92% of sufficient quality and overlap with the human phenotype to be scored in the ClinGen curation framework. (C) Mouse models were the predominant model organism scored.