Number of mutations identified through the WES analysis of DNA sample from the PNDM patient.

*Novel: a novel mutation means that it is not present in the public database dbSNP130 and the eight HapMap exomes sequenced by Ng et al. [7].†Concordance: % of similar allele assignment among exomic mutations detected on the Illumina Human1M-Duo array and those discovered by WES.‡Sensitivity: % of exomic mutations present on the Illumina Human1M-Duo array that have been discovered by WES.