Fig. 1
An overview of the variant prioritization workflow. MAF minor allele frequency, pLI probability of loss-of-function intolerance, novel absent from public databases (ExAC, 1000 genome, ESP5400)
Fig. 1 | Journal of Human Genetics
An overview of the variant prioritization workflow. MAF minor allele frequency, pLI probability of loss-of-function intolerance, novel absent from public databases (ExAC, 1000 genome, ESP5400)
