Rare genetic diseases (RGD) are individually rare but collectively frequent, thus leading to worldwide initiatives to favor timely access to cure and reduce expensive and often useless clinical and genetic analyses. The project will construct a data-base of clinical and genetic data to optimize policies and support decision making processes in the SSN,
Whole Genome Sequencing into the diagnostic workflow of rare diseases: a cost-effectiveness evaluation in a heterogeneous population of patients with inconclusive Whole Exome Sequencing
Abstract
