Overall we rediscovered 671 (1.3%) of the 50,361 coding single nucleotide variants in HGMD-DM (Supplementary Table 5). The types of disease for which variants were identified were biased towards certain categories (Supplementary Fig. 12), with diseases associated with the eye and reproduction significantly over represented and diseases of the nervous system significantly underrepresented. These biases reflect multiple factors including differences in the fitness effects of the variants, the extent of medical genetics research and differences in the false reporting rate among ‘disease causing’ variants.
