Eine Mann füllt mit einer Pipette eine rote Flüssigkeit in ein kleines Glas

Prioritization of Exome Data by Image Analysis (PEDIA-Study)

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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.

In a multi-center study, we are currently investigating the diagnostic performance of the analysis tool Face2Gene in assessing exome data (PEDIA-study, https://suite.face2gene.com/pedia-2/).

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.

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