Elig.phs001191.v1.p1.1
Item
NUgene subjects were selected for whole genome sequencing for use in eMERGE, based on the following inclusion criteria:
boolean
C3640076 (UMLS CUI [1,1])
C0242802 (UMLS CUI [1,2])
C1512693 (UMLS CUI [1,3])
C0243161 (UMLS CUI [1,4])
Elig.phs001191.v1.p1.2
Item
Subjects who had at least in-person clinical encounter (outpatient visit, inpatient hospital stay, etc.) at Northwestern Medicine within the last 3 years
boolean
C0443144 (UMLS CUI [1,1])
C0205210 (UMLS CUI [1,2])
C1512346 (UMLS CUI [1,3])
C0565990 (UMLS CUI [1,4])
C0449238 (UMLS CUI [1,5])
Elig.phs001191.v1.p1.3
Item
Subjects who self-reported being one of the following races or ethnicities, especially if a minority race or ethnicity ethnicity (a higher number of minorities were targeted for selection in order to increase the number of potentially under-represented minorities within eMERGE):
boolean
C0681906 (UMLS CUI [1,1])
C0015031 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,3])
C0026192 (UMLS CUI [1,4])
Elig.phs001191.v1.p1.4
Item
Hispanic/Latino
boolean
C0086409 (UMLS CUI [1,1])
C0086528 (UMLS CUI [1,2])
Elig.phs001191.v1.p1.5
Item
African American
boolean
C0085756 (UMLS CUI [1,1])
Elig.phs001191.v1.p1.6
Item
Caucasian
boolean
C0043157 (UMLS CUI [1,1])
Elig.phs001191.v1.p1.7
Item
Subjects who could be recontacted for future research if needed, i.e., subjects who:
boolean
C0681850 (UMLS CUI [1,1])
C0521104 (UMLS CUI [1,2])
C1522577 (UMLS CUI [1,3])
C0016884 (UMLS CUI [1,4])
C0035168 (UMLS CUI [1,5])
Elig.phs001191.v1.p1.8
Item
agreed to be re-contacted for future research
boolean
C0521104 (UMLS CUI [1,1])
C1522577 (UMLS CUI [1,2])
C0016884 (UMLS CUI [1,3])
C0035168 (UMLS CUI [1,4])
Elig.phs001191.v1.p1.9
Item
are alive (i.e., not deceased, at least according to our records)
boolean
C2584946 (UMLS CUI [1,1])
Elig.phs001191.v1.p1.10
Item
are less than or equal to 81 years old (i.e., not as likely to be deceased)
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs001191.v1.p1.11
Item
and live in Chicago, IL or its surrounding area (incl. Illinois, Indiana, Michigan and Wisconsin).
boolean
C0237096 (UMLS CUI [1,1])
C0017446 (UMLS CUI [1,2])
C1706276 (UMLS CUI [1,3])
Elig.phs001191.v1.p1.12
Item
After meeting all of the above criteria, an additional criteria was applied for most subjects: subjects who were not already genotyped to be eMERGE subjects. When this additional criteria was not applied, existing eMERGE subjects meeting all of the other criteria were selected either because they are a minority and/or because they are already known to have at least 1 of the 80 phenotypes of interest within eMERGE that have yet to be fully studied.
boolean
C1550543 (UMLS CUI [1,1])
C1516637 (UMLS CUI [1,2])
C1524062 (UMLS CUI [1,3])
C0243161 (UMLS CUI [1,4])
C1285573 (UMLS CUI [2,1])
C1272696 (UMLS CUI [2,2])
C1524062 (UMLS CUI [3,1])
C0243161 (UMLS CUI [3,2])
C1272460 (UMLS CUI [3,3])
C0242802 (UMLS CUI [3,4])
C0681850 (UMLS CUI [3,5])
C1550543 (UMLS CUI [3,6])
C0205394 (UMLS CUI [3,7])
C0243161 (UMLS CUI [3,8])
C0015031 (UMLS CUI [3,9])
C0026192 (UMLS CUI [3,10])
C0205309 (UMLS CUI [3,11])
C0031437 (UMLS CUI [3,12])
C3699388 (UMLS CUI [3,13])