Female
Systemic lupus erythematosus (SLE)
We used Vanderbilt’s Synthetic Derivative (SD), a de-identified version of the EHR, with 2.5 million subjects. We selected all individuals with at least one SLE ICD-9 code (710.0) yielding 5959 individuals. To create a training set, 200 were randomly selected for chart review. A subject was defined as a case if diagnosed with SLE by a rheumatologist, nephrologist, or dermatologist.
Type 1 and type 2 Diabetes Mellitus
This document describes the Stanford University algorithm to extract individuals with diabetes and the type of diabetes from electronic health records (EHRs). There are two main tasks of this phenotype development: 1) to extract patients with diabetes (gestational diabetes is excluded), and 2) to discriminate between type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM). Instead of identifying all diabetes cases, we aim to reduce the number of false positives in our diabetes cohort.
Type 1 Diabetes
Phenotype Algorithm for Type 1 Diabetes – eMERGE Phase-IV Program
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.
Venous Thromboembolism (VTE)
Recently published GWAS of VTE done by Mayo: http://www.ncbi.nlm.nih.gov/pubmed/22672568