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Fig. 2 | Genome Medicine

Fig. 2

From: Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

Fig. 2

An 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 encephalopathy

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