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PEDIA Study: Prioritization of Exome Data by Image Analysis
The sequencing of large gene panels and whole exomes has become the first choice for many genetic questions. However, the screening of a large number of sequence variants is a major challenge in the evaluation of exome data, so that effective prioritization strategies play an important role. For the interpretation of a rare mutation, the phenotypic abnormalities associated with a gene can be compared with those of the patient. In addition to a precise description of the clinical features, this can also be done by means of computer-assisted evaluation of image data.
For the second phase of the PEDIA study our goal is to discover new disease genes by using image analysis. In consultation with the clinicians we identified nine syndromes with a distinct facial phenotype and unknown molecular cause.