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PEDIA study: Prioritization of Exome Data by Image Analysis

Interpreting thousands of sequence variants from an exome analysis is challenging, especially if only the data of the patient itself is available and no more family members can be used for filtering. In such cases a detailed description of the phenotypic findings is the key for prioritizing candidate mutations. In patients with dysmorphic features automated image analysis has recently shown to be very sensitive in detecting even mild phenotypic features. Face2Gene is a leader in this field and we teamed up with them to test the performance of prioritization strategies that combine information from the molecular as well as from the phenotype level. We would be happy if you would join the PEDIA study and contribute a syndromic case from your lab. Please see the study website and contact us for more details.

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