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. 2024 Feb 22;7(2):e240146. doi: 10.1001/jamanetworkopen.2024.0146

Figure 2. Rapid Trio Genome Sequencing (rtGS) Results.

Figure 2.

A, Diagnostic efficacy of rtGS in full Baby Bambi cohort (130 neonates). B, Types and proportions of disease-causing variants identified in the Baby Bambi cohort (65 neonates). LP indicates likely pathogenic; P, pathogenic; SNV, single-nucleotide variant; VUS, variant of unknown significance.