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
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.
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.
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.
Statins and MACE
Phenotype Description: Patients on statins for primary prevention who develop an AMI or 1st AMI.
Below are algorithms used to identify AMI and 1st AMI cohort at BioVU. If you have questions regarding any of the information presented on this page, you may contact either:
Wei-Qi Wei at email@example.com
Joshua Denny at firstname.lastname@example.org
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