Fig. 2

Statistics of clinical interpretation records and schematic of geMERlb pipeline. (A) Counts of clinical interpretation records for the top 15 disease types in the Variation-Level and Gene-Level datasets. (B) Counts of clinical interpretation records for the top 15 genes in the Variation-Level and Gene-Level datasets. (C) Statistics of clinical interpretation records for different variant types in the Variation-Level dataset. (D) Statistics of clinical interpretation records for different Missense mutations. (E) Schematic of the algorithm for identifying mutation enrichment region for genomic element.