Somayeh Mohammadi, Hamidreza Mokhtarinia, Reza Nejatbakhsh, Andrew Scuffham
Ergonomics evaluation of school bags in Tehran female primary school children
Work (Reading, Mass.)
evaluated american college medical genetics genomicsassociation molecular pathology acmgamp variant pathogenicity guidelines internal consistency compatibility bayesian statistical reasoning acmgamp criteria translated naive bayesian classifier assuming four levels evidence exponentially scaled odds pathogenicity tested framework range prior probabilities odds pathogenicity modeled acmgamp guidelines using biologically plausible assumptions acmgamp combining criteria compatible one acmgamp likely pathogenic combination mathematically equivalent pathogenic one acmgamp pathogenic combination actually likely pathogenic modeled combinations include evidence pathogenicity showing approach scored combinations pathogenic likely pathogenic acmgamp would designate variant uncertain significance vus transforming acmgamp guidelines bayesian framework provide mathematical foundation qualitative heuristic 2 18 existing acmgamp evidence combinations mathematically inconsistent overall framework mixed combinations pathogenic benign evidence could yield likely pathogenic likely benign vus result quantitative framework validates approach adopted acmgamp provides opportunities refine evidence categories combining rules supports efforts automate components variant pathogenicity assessments