Ontology highlight
ABSTRACT:
SUBMITTER: Philp AR
PROVIDER: S-EPMC2717180 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
Philp A R AR Jin M M Li S S Schindler E I EI Iannaccone A A Lam B L BL Weleber R G RG Fishman G A GA Jacobson S G SG Mullins R F RF Travis Gabriel H GH Stone Edwin M EM
Human mutation 20090801 8
To assist in distinguishing disease-causing mutations from nonpathogenic polymorphisms, we developed an objective algorithm to calculate an "estimate of pathogenic probability" (EPP) based on the prevalence of a specific variation, its segregation within families, and its predicted effects on protein structure. Eleven missense variations in the RPE65 gene were evaluated in patients with Leber congenital amaurosis (LCA) using the EPP algorithm. The accuracy of the EPP algorithm was evaluated usin ...[more]