Cardiorespiratory Fitness Algorithm (eMERGE Mayo Network Phenotype)
Please refer to attached documents.
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Mayo Clinic
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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Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is a relatively common Mendelian genetic disorder that is associated with elevated plasma low-density lipoprotein cholesterol (LDL-C) levels and dramatically increased lifetime risk for premature atherosclerotic cardiovascular disease (ASCVD). FH can be diagnosed based on clinical presentation and/or genetic testing results, with a positive genetic testing considered to be the “gold standard”.
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Peripheral Arterial Disease - 2012
Peripheral Arterial Disease (PAD) is prevalent with approximately 10-12 million adults in US affected. For those with PAD, morbidity and mortality are high and quality of life is markedly impaired. The genetic basis of PAD is poorly understood and is the focus of the Mayo Clinic Electronic Medical Records and Genomics (eMERGE) Network study.
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Red Blood Cell Indices
Laboratory results for ESR and RBC indices (hemoglobin, MCV, MCH, RDW… etc) should be extracted from the Laboratory databases. For Mayo, from January 1994 till October 2009, ESR and RBC test results were populated for our 3336 participants. All samples were collected on an outpatient basis. Samples collected during an inpatient hospitalization (admit date ≤ collection date ≤ discharge date) should be excluded unless this sample was the only one available for a patient.
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Type1 or Type 2 Diabetes Mellitus
Phenotyping algorithm for the identification of patients with type 1 or type 2 diabetes mellitus (DM) preoperatively using routinely available clinical data from electronic
health records.
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Venous Thromboembolism (VTE)
Recently published GWAS of VTE done by Mayo: http://www.ncbi.nlm.nih.gov/pubmed/22672568
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