eMERGE Marshfield Group

Autoimmune Disease Phenotype

Autoimmune diseases (AID) refer to destructive conditions involving an aberrant chronic activation of the adaptive immune system, where the immune cells instead of producing antibodies to attack foreign invaders, mistakenly attack the body’s own healthy cells.  While autoimmune diseases are heterogeneous according to symptoms, lesion types, and prognosis, and are usually studied in isolation according to groups based on organ system; various autoimmunity diseases share similar immune effector mechanisms.  Recent genetic studies suggest that many autoimmune and chronic autoinflammatory condi

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Breast Cancer

Cataracts

We used a multi-modal strategy consisting of structured database querying, natural language processing on free-text documents, and optical character recognition on scanned clinical images to identify cataract subjects and related cataract attributes.

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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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Coronary Heart Disease (CHD)

Algorithm for coronary heart disease (aka coronary artery disease) based on research done by the eMERGE Network. Cases are ascertained by either two ocurrences of diagnostic codes or one ocurrence of a procedural code. Defined as individuals with no diagnostic or procedural codes recorded. All ICD-9 and ICD-10 codes are labeled as diagnostic or procedural in the attached excel file.

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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

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