Fig. 2: GEM AI performance is agnostic with respect to CNLP tool.
From: MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission
Bars show the proportion of diagnosed NeoSeq probands where the true causal genes were identified by GEM among the top 1st, 2nd, 5th, and 10th gene candidates. Each GEM run differed by the input HPO term lists, which were made by extracting phenotypes from patient clinical notes using CNLP (ClinPhen, CLiX, cTAKES, MedLEE, MetaMapLite) or manual physician review. The RCHSD benchmark (n = 119 patients) results from the original GEM paper are included for reference (redrawn with authors’ permission). Figure generated with R ggplot2 software.
