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 Opens external link in current windowFace2Gene 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. For these syndromes we can offer free exome sequencing:

  • %601853 GOMEZ-LOPEZ-HERNANDEZ SYNDROME (Cerebellotrigeminal Dermal Dysplasia)
  • %229400 FRONTOFACIONASAL DYSPLASIA
  • %601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA AND MENTAL RETARDATION
  • %164220 SCHILDBACH-ROTT SYNDROME
  • %223370 DUBOWITZ SYNDROME
  • %167730 NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME
  • %234100 HALLERMANN-STREIFF SYDROME
  • %119580 BLEPHAROCHEILODONTIC SYNDROME
  • %147770 JOHNSON NEUROECTODERMAL SYNDROME


If you have any questions, don't hesitate to contact us: pedia(at)charite.de.