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Rare Diseases

Rare Diseases Database 

Systematic recording of clinical abnormalities when genetic syndromes are suspected, documentation of the examination strategy and identified genetic variants.

 

"Somatic mosaicism" 

Detection of somatic changes in mosaic diseases in different tissues and in cell-free DNA. Project participants: pathology, pediatric surgery / vascular outpatient clinic, children's clinic.

 

Austrian exome meetings

Training event for practical further education in the field of exome analysis. Comparative evaluation of Exom data sets for quality assurance. Development of common solutions for improved and more uniform interpretation and diagnosis. Software comparison. Austria-wide variant database. Project participants: HG Graz, HG Vienna, HG Innsbruck, HG Salzburg, Hanusch.

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