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.
This is PhEMA (Phenotype Execution Modeling Architecture, projectphema.org)'s implementation of the following BPH (Benign Prostatic Hyperplasia) case algorithm from the following BPH case and control algorithm on PheKB:
https://phekb.org/phenotype/benign-prostatic-hyperplasia-bph
Artifacts for this phenotype, inc. an HQMF representation, a KNIME workflow that can run against an i2b2 instance, and a snapshot of the PhAT graphical representation, are posted on GitHub:
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.
Systemic Lupus Erythematosus (SLE) is a chronic, systemic autoimmune disease that can affect many parts of the body including skin, lungs, brain, heart, kidneys, joints, and blood vessels. SLE presentation can vary significantly between patients. Because of this, it can be challenging to identify a patient as having SLE. Between 300,000 and 2,000,000 people in the US are estimated to have SLE. Determination of an exact number of people affected is challenging as the disease is difficult to identify given the diverse presentations and the length of time it may take for symptoms to appear.
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.
Recently published GWAS of VTE done by Mayo: http://www.ncbi.nlm.nih.gov/pubmed/22672568