eMERGE Vanderbilt Group

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Final

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

Owner Phenotyping Groups:

American-Swiss Allergy Phenotyping Group

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001

BioVU Phenotyping

Data Science to Patient Value Initiative (D2V) - Colorado

Farr Institute Kidney Working Group

GPC

NIH Collaboratory Group

PCORI CDRN/PPRN

PCORI MidSouth CDRN

PCORI MidSouth CDRN/Duke Group

PCORI MidSouth CDRN/Greenway Group

PCORI MidSouth CDRN/HSSC Group

PCORI MidSouth CDRN/Meharry Group

PCORI MidSouth CDRN/UNC Group

PCORI MidSouth CDRN/VUMC Group

Precision Medicine and Health Disparities Collaborative

Resistant hypertension WG

Vanderbilt - Music Cognition Lab

VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment

Final

Breast Cancer

Breast cancer is the most common cancer and the second leading cause of cancer-related death among women in the U.S. Known breast cancer risk factors include age, race/ethnicity, reproductive factors, and benign breast disease. Family history of breast cancer and hereditary cancer syndromes, such as BRCA1/BRCA2 mutations, confer the strongest risk for this disease.

Owner Phenotyping Groups:

American-Swiss Allergy Phenotyping Group

View Phenotyping Groups:

001

BioVU Phenotyping

Data Science to Patient Value Initiative (D2V) - Colorado

Farr Institute Kidney Working Group

GPC

NIH Collaboratory Group

PCORI CDRN/PPRN

PCORI MidSouth CDRN

PCORI MidSouth CDRN/Duke Group

PCORI MidSouth CDRN/Greenway Group

PCORI MidSouth CDRN/HSSC Group

PCORI MidSouth CDRN/Meharry Group

PCORI MidSouth CDRN/UNC Group

PCORI MidSouth CDRN/VUMC Group

Precision Medicine and Health Disparities Collaborative

Resistant hypertension WG

Vanderbilt - Music Cognition Lab

VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment

VICTR Phenotyping

Final

Cardiac Conduction (QRS)

Algorithm to select subjects with "normal" electrocardiograms. Subjects do not have heart disease, interfering medications, or abnormal electrolytes at the time of the normal ECG. Individuals may, however, develop abnormalities later in life.

Hypothetical timeline for a single patient:

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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:

American-Swiss Allergy Phenotyping Group

View Phenotyping Groups:

001

BioVU Phenotyping

Data Science to Patient Value Initiative (D2V) - Colorado

Farr Institute Kidney Working Group

GPC

NIH Collaboratory Group

PCORI CDRN/PPRN

PCORI MidSouth CDRN

PCORI MidSouth CDRN/Duke Group

PCORI MidSouth CDRN/Greenway Group

PCORI MidSouth CDRN/HSSC Group

PCORI MidSouth CDRN/Meharry Group

PCORI MidSouth CDRN/UNC Group

PCORI MidSouth CDRN/VUMC Group

Precision Medicine and Health Disparities Collaborative

Resistant hypertension WG

Vanderbilt - Music Cognition Lab

VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment

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:

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Final

Colorectal Cancer (CRC)

A pheontype defining patients with strong evidence of having been diagnosed with colorectal cancer (cases) and patients who clearly do not have such diagnoses (controls). This phenotype is being used for sequencing studies. The only NLP involved in this phenotype is a very simple string search applied to pathology reports.

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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

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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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