Elig.phs001211.v4.p3.1
Item
The inclusion criteria for selection of ARIC study participants for the TOPMed Whole Genome Sequencing Project were full consent or consent for cardiovascular disease-specific research, sufficient DNA for sequencing, and unrestricted use of DNA. Inclusion and exclusion criteria for the individual phenotypes assessed in this study are described below:
boolean
C1512693 (UMLS CUI [1,1])
C0242801 (UMLS CUI [1,2])
C1997894 (UMLS CUI [1,3])
C0242356 (UMLS CUI [1,4])
C0021430 (UMLS CUI [1,5])
C0007222 (UMLS CUI [1,6])
C2348235 (UMLS CUI [1,7])
C0681814 (UMLS CUI [1,8])
C0470187 (UMLS CUI [1,9])
C0012854 (UMLS CUI [1,10])
C1561491 (UMLS CUI [1,11])
C3858706 (UMLS CUI [1,12])
C1524063 (UMLS CUI [1,13])
C0012854 (UMLS CUI [1,14])
C1512693 (UMLS CUI [2,1])
C0680251 (UMLS CUI [2,2])
C0031437 (UMLS CUI [2,3])
C0678257 (UMLS CUI [2,4])
Elig.phs001211.v4.p3.2
Item
A. Venous Thromboembolism project (VTE)
boolean
C1861172 (UMLS CUI [1,1])
C1709701 (UMLS CUI [1,2])
Elig.phs001211.v4.p3.3
Item
VTE includes both deep vein thrombosis (DVT) in which a blood clot forms in a vein deep in the body, and pulmonary embolism (PE) where a blood clot travels to the lungs and blocks blood flow. Two hundred ninety-nine (299) VTE cases and 3,638 members of the comparison group were chosen for sequencing from the ARIC study. The objectively diagnosed DVT and PE cases were confirmed by venous or pulmonary imaging, pathology examination of the thrombus removed at surgery, or by autopsy.
boolean
C1861172 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0149871 (UMLS CUI [1,3])
C0034065 (UMLS CUI [1,4])
C1265611 (UMLS CUI [2,1])
C1861172 (UMLS CUI [2,2])
C1698493 (UMLS CUI [2,3])
C1561491 (UMLS CUI [2,4])
C1265611 (UMLS CUI [3,1])
C0009932 (UMLS CUI [3,2])
C1561491 (UMLS CUI [3,3])
C0011900 (UMLS CUI [4,1])
C0149871 (UMLS CUI [4,2])
C0034065 (UMLS CUI [4,3])
C0750484 (UMLS CUI [4,4])
C0011923 (UMLS CUI [4,5])
C0332142 (UMLS CUI [4,6])
C0004398 (UMLS CUI [4,7])
Elig.phs001211.v4.p3.4
Item
B. Identification of Common Genetic Variants for Atrial Fibrillation and PR Interval - Atrial Fibrillation Genetics Consortium (AF Gen)
boolean
C0600091 (UMLS CUI [1,1])
C0200898 (UMLS CUI [1,2])
C0205419 (UMLS CUI [1,3])
C0314603 (UMLS CUI [1,4])
Elig.phs001211.v4.p3.5
Item
Eighty-four (84) individuals with early-onset atrial fibrillation were selected for sequencing.
boolean
C1265611 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0814120 (UMLS CUI [1,3])
C0004238 (UMLS CUI [1,4])
C1561491 (UMLS CUI [1,5])