Figure 3
From: Prioritization of putatively detrimental variants in euploid miscarriages
Overview of the pipeline for prioritization of the genetic variants. (A) gp takes as input genomic variants information from cases and controls and outputs a subset of variants prioritized according to user-defined parameters. gp currently analyzes coding regions and performs four filtering steps. (B) Filter I retains variants based on three criteria: overall impact on the gene product moderate or high, allele frequency in control populations, the combined property of being putatively damaging (quantified bythe CADD score) and located in genes intolerant to loss of function (determined by the pLIÂ score). It is also possible to incorporate one or more user-defined lists of genes relevant to the trait under study. (C) Filter III determines the chance for genes to be selected in a control population based on criteria specified in Filter I. In practice, a number of control individuals are sampled a number of times and their genetic data filtered using Filter I to obtain a list of genes selected by chance.
