Analysen, Diagnose, Prognose – Genomische Daten für die gesamte Lebensdauer

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Präsentiert von
Sebastian Lunke
Leiter der Abteilung für Genetik und Genomik, Victorian Clinical Genetics Services

Dieses Webinar behandelt
Übergang von physisch ausgerichteten Panels zu In-silico-Panels, die von Exomen unterstützt werden
Bereitstellung einer Perspektive zu neuen klinischen genomischen Anwendungen

Like many genetic diagnostic laboratories past and current, the Victorian Clinical Genetics Service (VCGS), one of the first laboratories in Australian to be accredited for clinical genomic testing, used to employ a variety of different molecular tests and targeted sequencing panels to meet different demands for clinical genomic testing. However, with increased scale, and improvements in lab automation and capture chemistries, the cost of data generation has now dropped to a level where it is more efficient to use exome sequencing as the underlying platform for most clinical genomic applications. Here we will discuss our experience with transitioning from physical targeted panels to in-silico panels backed by exomes, and provide an outlook on emerging clinical genomic applications, including epigenomics and newborn screening.

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