Additional file 11 of Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Abstract

Additional file 11: Table S10. Enrichment of clinical categories among the top PheWAS associations. The top 15 traits (codes) for each gene analyzed (n = 1470 gene-trait pairs) were divided into 17 clinical categories (observed counts column). The values in the expected counts column are calculated as 1470 * {the proportion of traits of that category tested}. For example, 159 out of 1531 codes tested were from the “circulatory system” category, so the expected counts for “circulatory system” are calculated as 1470*159/1531. The last column contains the p-value from a binomial test comparing whether the observed proportion of clinical categories is more extreme than expected