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Fig. 1 | Genome Medicine

Fig. 1

From: A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

Fig. 1

Technologies and methods to diagnose rare diseases when ES is unrevealing. Many of these technologies complement each other, fill the missing gaps, and should be analyzed in an integrated manner. The selection between metabolomics, proteomics, methyl profiling, and immune assays should be guided by the patient’s clinical presentation and existing candidate genes identified through sequencing. Functional studies can be used to validate strong candidate variants or elucidate the underlying molecular mechanism of the disease after identifying the causative gene. ES: Exome Sequencing, GS: Genome Sequencing, UN: unstimulated. Some of the graphics representing different technologies or methods have been adapted with permission from [10,11,12]

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