Significance Associated with Phenotype (SAP) Score Aids in Variant Prioritization for Exome Sequencing Analysis

Several in silico annotation-based methods have been developed to prioritize variants in exome sequencing analysis. This study introduces a novel metric, the Significance Associated with Phenotypes (SAP) score, which generates a statistical score by comparing an individual’s observed phenotypes against existing gene-phenotype associations. To evaluate the SAP score, a retrospective analysis was performed on 219 exomes. Among them, 82 family-based and 35 singleton exomes had at least one disease-causing variant explaining the patient’s clinical features.