Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.

Furthermore, we analyzed the phenotype test cohort in addition to diagnosed individuals with mtDNA variants known to cause LHON and sensorineural hearing loss ( n = 119) and found highly significant differences between the mtDNA and nuclear genotypes based on phenotype similarity scores, with a higher AUC of 0.93 using ROC analysis ( Figures 2 C and 2D).

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