TREM2 has the signal region identified in the ADSP WES discovery data set (A) and replicated both in the ADSP WGS replication (B) and the ADSP validation (C) data sets. The signal cluster is identified in the POKEMON test with the DBSCAN algorithm. All variants within the clusters are rare variants with MAF < 0.05. Clusters classified as case clusters are formed by variants carried primarily by AD subjects, and clusters classified as control clusters are formed by variants carried primarily by cognitively normal subjects. Variants assigned with a cluster label are shown, but all the other variants are not shown in the figure.
