Best practices for the interpretation and reporting of clinical whole genome sequencing.

Whole genome sequencing (WGS) is emerging as a first-tier diagnostic test for rare genetic diseases. Compared to whole exome sequencing (WES) and other molecular diagnostic tests...

Haga clic en el enlace https://doi.org/10.1038/s41525-022-00295-z para abrir el recurso.
◄ Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
Resources and tools for rare disease variant interpretation. ►

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