fig1

Figure 1. Schematic representation of the Cincinnati Clinical Exome Pipeline Analysis Suite (CCEPAS). The analysis consisted of four stages, namely, phenotyping, genetic, gene/variant (filtering-in and ranking) and knowledge. At the phenotyping stage, cases were reviewed and Pheno2gene was utilized to obtain a gene list based clinical feature keywords. VarEval, an algorithm based on weighing, filtering and scoring, performed the genetic and gene/variants stages. The knowledge based analysis was a manual curation of genes that confirmed the phenotype-genotype correlations and assessment of the pathogenicity of variants, after which variants were classified into five categories. Then, the variants were examined by molecular geneticist and clinician, variants were sent for Sanger confirmation and a report was drafted