Figure 1 | Genetics in Medicine

Figure 1

From: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Figure 1

Clinical validity assessment versus candidate-gene criteria. Clinical validity assessment uses the peer-reviewed literature about gene–disease relationships along with previously reported patients to determine the level of existing evidence that a particular disease is truly caused by alterations in a particular gene. Candidate-gene criteria, which are patient specific, are used to determine the level of available experimental evidence available to propose a candidate gene–disease relationship.

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