Table 1.
Evaluation of Primary Hypothyroidism Algorithm at the Five eMERGE Sites
Site | Primary Phenotype | Total Genotyped Subjects |
Primary Hypothyroidism |
|||
---|---|---|---|---|---|---|
Cases | Controls | Case PPV (%) | Control PPV (%) | |||
Group Health | dementia | 2532 | 397 | 1,160 | 98 | 100 |
Marshfield | cataracts | 4113 | 514 | 1,187 | 91 | 100 |
Mayo Clinic | peripheral arterial disease | 3043 | 233 | 1,884 | 82 | 96 |
Northwestern | type 2 diabetes | 1217 | 92 | 470 | 98 | 100 |
Vanderbilt | normal cardiac conduction | 2712 | 81 | 352 | 98 | 100 |
All sites | 13,617 | 1317 | 5053 | 92.4a | 98.5a |
Genotype counts represent all subjects who were found by the hypothyroidism algorithms at each site and who were genotyped. Counts are limited to those classified as “white” in the electronic medical record of each site. PPV = positive predictive value.
Average weighted for number of samples contributed to the total.