Figure 7.

Signal regions on EXOC3L4 (AlphaFold2: Q17RC7.A) are identified by POKEMON from the ADSP WES discovery data set (A) and validated in both the ADSP WGS replication (B) and the ADSP validation (C) data sets. The signal regions are 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.

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