Scatter Plot from Scientific Research

Comparison of the number of (likely) pathogenic variants per gene in TRANSLATE NAMSE relative to the frequency of submission of (likely) pathogenic variants to ClinVar. Genes are ordered from left to right according to a decreasing frequency of ClinVar submissions. The black line corresponds to the complementary cumulative distribution (1 - CDF; cumulative distribution function) of ClinVar submissions. Diagnostic variants in TRANSLATE NAMSE (counts displayed on the right axis) were plotted as dots above their respective gene and in the color corresponding to the year in which the gene was first described as being associated with the respective disease.

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