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Fig. 1 | Genome Medicine

Fig. 1

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

Fig. 1

Automatically identifying probands with Mendelian phenotypes and prioritizing them for WGS using NLP-derived HPO phenotype descriptions. Distributions of MPSE raw scores for RCHSD sequenced (red) and RCHSD unsequenced (blue) probands. Score distributions for Utah NeoSeq (green) and Utah unsequenced probands (purple). Insert: Receiver operator characteristic (ROC) curve for RCHSD data. MPSE scores are -log likelihood ratios

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Genome Medicine

ISSN: 1756-994X

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