Figure 1 | Scientific Reports

Figure 1

From: Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

Figure 1

Human and EVIDENCE variant prioritization. A total of 263 unrelated probands from the SNUH and SNUBH sensorineural hearing loss cohort were evaluated using exome sequencing (ES). The ES data was analyzed by human bioinformaticians and using an automated variant prioritization system (EVIDENCE). The prioritization of the variants was compared. The concordant call rate of either prioritized variants or the absence of candidate variants among the entire cohort between humans and EVIDENCE was 97.72% (257/263).

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