Fig. 2From: Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learningAn automatically generated HPO-based phenotype description scored by MPSE. In this word-cloud, size and color are proportional to each HPO term’s contribution to the proband’s final MPSE prioritization score. Previously diagnosed by RCHSD using WGS, this child is heterozygous for a large deletion on the X chromosome which spans the PCDH19 gene, causative for female-restricted X-linked epileptic encephalopathyBack to article page