Table 1:

Genomic sequencing and phenotyping methods from studies of undiagnosed patients unselected for a specific phenotype published in 2014–2018

Study PMID	First author	Year	# Patients	Age group	Type of sequencing	Individuals studied	Phenotyping method
30304647	Splinter K	2018	382	pediatric and adult	exome and genome	families when available	cross-disciplinary team selects HPO terms
25326635	Yang Y	2014	2000	prenatal to adult	exome	proband with parent Sanger confirmation when available	clinical data provided by referring physician
25326637	Lee H	2014	814	pediatric and adult	exome	proband, trio, and other family members	referring physician reported primary clinical indication and differential diagnosis
28496993	Bick D	2017	22	pediatric	genome	proband with parent Sanger confirmation when available	referring physician case summary
26633542	Retterer K	2016	3040	pediatric and adult	exome	proband and up to 4 family members when available	referring physician provided primary clinical diagnosis and ICD-9 code, used to select HPO terms
26938784	Stark Z	2016	80	infants	exome	proband	diagnostic investigations from referring clinicians and medical records, HPO terms collected at enrollment
28567303	Stavropoulos D	2016	100	pediatric	genome	proband	PhenoTips collection after clinical geneticist exam using HPO terms
26633545	Posey J	2016	486	adults	exome	proband with parent Sanger confirmation when available	available clinical information used to generate HPO terms
25356970	Farwell K	2015	500	prenatal to adult	exome	trios when available	clinical and test history from referring provider summarized by molecular geneticist or genetic counselor
30266093	Normand E	2018	146	prenatal	exome	proband or trio	fetal phenotype converted to HPO categories using Phenomizer
27848944	Trujillano D	2017	1000	prenatal to adult	exome	trios when available	referring provider clinical data used to generate HPO terms
28973083	Meng L	2017	278	infants	exome	proband or trio	BioLark and manual review of clinical notes used to generate HPO terms