Fig. 2.

Proposed strategy for reanalyzing negative exomes. Collaborations between multidisciplinary clinical and research teams facilitate reanalysis of negative CES to reach a diagnosis. These negative CES cases can be divided into three classes after reanalysis: (1) candidate variants linked to the phenotype but of limited pathogenic evidence; (2) candidate variants in new genes not linked to the phenotype; (3) no candidate variants detected by CES after reanalysis. CES, clinical exome sequencing; CNV, copy number variation; VExP, Variant Explorer Pipeline