Fig. 1
From: Explorations to improve the completeness of exome sequencing
Characteristics of the UDP patient cohort. a Percentage of pediatric cases (n = 11-28 per quarter year) with prior inconclusive exome sequencing that applied to the UDP. b Number of HPO terms that are shared by a given number of patients (total n = 350 affected individuals). The top five HPO terms that were used in more than 50 patients were spasticity, global developmental delay, gastroesophageal reflux, seizures and short stature. c Family structures of nuclear families in the UDP cohort, n = 329