Genome analysis and knowledge-driven variant interpretation with TGex

BMC Medical Genomics

Table 3 Comparison between phenotype classes in Guangxi Maternal Hospital

Phenotype class	Common associated keywords	Total cases	Resolved cases	% Resolved
Growth Retardation	Short stature	107	66	61.7
Developmental Delay	Mental retardation, Delayed speech, Motor delay	174	101	58.0
Epilepsy	Seizures, Convulsion, Spasm	191	121	63.4
Genitalia symptoms	Scrotum, Micropenis, Hypogonadism, Hypospadia	131	30	22.9

To compare between phenotype classes, highly abundant keywords in all of the cases of the account were selected. Those keywords were grouped into four main classes of phenotypes, and the statistics for all of the cases of each phenotype class were calculated (with minor case overlap between classes)

ISSN: 1755-8794