eMERGE Vanderbilt Group

ACE Inhibitor (ACE-I) induced cough

ACE-I induced cough is a common side effect of use of ACE inhibitors, one of the most common class of antihypertensives.  The frequency of ACEI-induced cough varies based on ancestry.  A GWAS of ACEI cough using this algorithm in the eMERGE Network identified KCNIP4 as associated with this phenotype, which was validated in two replication cohorts. 

Cases are those with ACEI cough.  Controls are those exposed to ACEI without adverse events noted and not switched to angiotensin receptor blockers (ARBs).  

Algorithm validated - December 12, 2012.

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Final

Breast Cancer

Chronic Kidney Disease

Chronic kidney disease (CKD) is defined as an abnormality of kidney structure or function present for longer than 3 months. CKD can occur as a result of heterogeneous disorders affecting the kidney. In the United States, an estimated 13.6% of adults have CKD. Notably, adjusted mortality rates are higher for patients with CKD than those without, and rates increase with CKD stage. The purpose of this algorithm is to enable accurate CKD diagnosis and staging based on EHR data.

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Final

Clostridium Difficile Colitis

Clostridium difficile, also known as "C. diff," is a species of bacteria that causes severe diarrhea and other intestinal disease when competing bacteria in the gut have been wiped out by antibiotics (see Wikipedia entry). In rare cases a C. diff infection can progress to toxic megacolon which can be life-threatening. In a very small percentage of the adult population C. difficile bacteria naturally reside in the gut. Other people accidentally ingest spores of the bacteria while patients in a hospital or nursing home.

Validation:

Final

Hearing Loss

Phenotype Description:  individuals with sensorineural hearing loss (SNHL)
Below are algorithms used to identify individuals with SNHL at BioVU. If you have questions regarding any of the information presented on this page, you may contact either:
Wei-Qi Wei at wei-qi.wei@vanderbilt.edu or Joshua Denny at josh.denny@vanderbilt.edu

Final

Hypothyroidism

Project Outline:  Selection of all Caucasian patients with hypothyroidism without a secondary cause of surgical removal or radiological ablation.  The search is designed to eliminate subclinical hypothyroidism (by requiring that patients be on a replacement medication), medication-induced hypothyroidism (e.g., PTU, lithium, or history of amiodarone), and transient causes (e.g., pregnancy or subacute thyroiditis).

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Final

Ovarian/Uterine Cancer (OvUtCa)

The KPWA/UW-led ovarian/uterine cancer phenotype has been validated at Mayo Clinic, the secondary phenotype development site.  Validation results at both the primary and secondary sites were strong and the phenotype is ready for network wide implementation.  The pseudo code document posted 11/30/2017 is correct as is and should be used by network sites for phenotype implementation.  A validated data dictionary of covariates for this phenotype will be added to PheKB by 2/15/2018, but sites are encouraged to begin implementing the phenotype algorithm now.

Final

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