Male

Abdominal Aortic Aneurysm ( AAA )

The algorithm uses Structured Query Language to identify AAA cases, controls, and excludes from the Electronic Medical Record. AAA cases were defined as meeting at least one of three criteria: had a AAA repair procedure (Case Type 1), had at least one vascular clinic encounter with a diagnosis of ruptured AAA (Case Type 2), or had at least two vascular clinic encounters with a diagnosis of unruptured AAA (Case Type 3).

Owner Phenotyping Groups: 
Final

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

Appendicitis

Appendicitis is one of the most common acquired surgical conditions of childhood.  Diagnosis of appendicitis remains difficult.  Much work has been done on validation of clinical scores to reduce the number of unnecessary surgeries and radiographic tests while maintaining a high sensitivity for disease.  However, no score performs well enough in practice to reduce these risks (Kulik et al., 2013).  It is also known that appendicitis has a familial predominance, but little is known about the genetic factors that may increase a certain child's risk for the condition (Oldmeadow et al., 2009). 

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Final

bone scan utilization

Objective
Clinical care guidelines recommend that newly diagnosed prostate cancer patients at high risk for metastatic spread receive a bone scan prior to treatment and that low risk patients not receive it. The objective was to develop an automated pipeline to interrogate heterogeneous data to evaluate the use of bone scans using a two different Natural Language Processing (NLP) approaches.

Final

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.

Owner Phenotyping Groups: 
Final

Clopidogrel Poor Metabolizers

Note: Attached documents contain full case definition and two different control definitions.  One is for controls with 2 years of follow up, the other for controls with 1 year of follow up.  All available controls with 2 years of follow up were used in Vanderbilt's study.  The control population was supplemented by controls with only 1 year of follow up.  At the time of study, many of the available controls had experienced their qualifying events somewhat recently and 2 years had not yet passed for full follow up.

 

Final

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