Cribado, diagnóstico, predicción, datos genómicos para toda la vida

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Presentado por
Sebastian Lunke
Jefe de división de Genética y Genómica, Victorian Clinical Genetics Services

Cubierto en este seminario web
Transición de paneles dirigidos físicos a paneles digitales respaldados por exomas
Panorama de las aplicaciones genómicas clínicas emergentes

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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