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

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.

补充文件11：表S10。排名靠前的全表型组关联研究（Phenome-wide Association Study, PheWAS）关联结果中临床类别的富集分析。本研究对每个分析基因选取排名前15的表型（编码），共获得1470个基因-表型对，将其划分为17个临床类别（对应观测计数列）。预期计数列的数值通过公式1470 × {对应类别已检测表型的占比}计算得到。例如，在1531个已检测的编码中，有159个属于“循环系统”类别，因此该类别的预期计数为1470×159/1531。最后一列为二项检验的p值，用于比较临床类别的观测占比是否显著偏离预期占比。