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. 2024 Apr 10;12:1279112. doi: 10.3389/fped.2024.1279112

Figure 2.

Figure 2

Genematcher approach. Web based tools like GeneMatcher are used to share information about phenotypes of patients with IEI and the results of WGS analysis. GeneMatcher informs researchers about a “match”—same gene was uploaded by others—that allows them to get in touch, to exchange about phenotypes and results and to collaborate for further analysis of potential disease-causing genes. Figure created with Biorender.com.