Skip to main content
Fig. 2 | BMC Bioinformatics

Fig. 2

From: Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations

Fig. 2

Actual allelic frequencies f of the disease-causing mutations for 30 autosomal recessive disorders. For a total of 1169 disease-causing mutations, the allelic frequency f was plotted, relative to the static 1% threshold and the variable quantile-based thresholds. For all variants, it was indicated whether they were correctly classified. Disease prevalence is expressed as 1/n (with n ranging from 0 to 1 000 000)

Back to article page

BMC Bioinformatics

ISSN: 1471-2105

Contact us