Subsequently, EHR-based biobanks have been used to discover new genetic associations. One notable example was the identification of common variants near FOXE1, previously associated with thyroid cancer, in 1,317 cases and 5,053 controls across the eMERGE Network.10 A notable feature of this study was that the genetic data had been previously generated for other phenotypes at each eMERGE site and the case and control algorithms were successfully deployed across multiple sites. Thus this represents one of the first examples of successful reused of extant EHR/genomic data for discovery. Subsequent efforts in eMERGE have replicated other known associations and have identified new genetic loci associated with phenotypes such as erythrocyte sedimentation rate,19 varicella zoster virus infection,20 and red and white cell counts.21,22
