Fig. 2: Rate of genetic diagnosis with rWGS, CMA and gene panels. | npj Genomic Medicine

Fig. 2: Rate of genetic diagnosis with rWGS, CMA and gene panels.

From: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Fig. 2

a–c Rate of Genetic diagnosis with rWGS, CMA and gene panels. a Rate of diagnosis in cohort by rWGS. rWGS had a higher rate of diagnosis (11/24) in the cohort compared to microarray (1/19) and microarray +/− gene panel (2/21). b Rate of diagnosis in group tested by rWGS and CMA. The rate of diagnosis was statistically significant higher with rWGS compared to microarray (p = 0.04*; McNemar’s Test) when comparing the rate of diagnosis within the group that had both microarray and rWGS testing (n = 19). c Rate of diagnosis in group tested by rWGS and CMA/Gene Panels. When comparing the rate of diagnosis of rWGS within the group that received microarray +/− gene panels testing (n = 21) and rWGS, rWGS still outperformed in yielding a diagnosis (p = 0.02**; McNemar’s Test).

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