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Fig. 2 | Human Genomics

Fig. 2

From: Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases

Fig. 2

Distribution of the 195 pathogenic or likely pathogenic (P/LP) variants among 158 patients exhibiting at least one P/LP variant (variants #1 and #2 correspond to the first two variants in the CES medical report). The numbers outside the Venn diagram correspond to the numbers of genetic variants. The numbers within the Venn diagram correspond to the number of patients. Panels A–C show numbers for P, LP, and P/LP variants

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Human Genomics

ISSN: 1479-7364