Figure 2: Number of cited variants (NCV) score applied to clinical exome-sequencing cases from Baylor Genetics and from simulated individuals.
From: A literature review at genome scale: improving clinical variant assessment
(a) Variants ascertained from clinical exome-sequencing cases that resulted in a molecular diagnosis of Mendelian disorder had significantly higher NCV scores than those simulated from individuals in the Exome Aggregation Consortium database (Mann-Whitney U P < 2.22 × 10−16). (b) Variants identified as causal in clinical sequence interpretation that had been previously reported in patients had higher NCV scores, followed by novel variants in known genes and by variants also seen in control populations. (c) By mode of inheritance, cases with X-linked inheritance had higher NCV scores than those associated with autosomal dominant (AD) and autosomal recessive (AR) inheritances.
