Collaboration Phenotypes
Contact authors listed below are open to engaging others in the development of their phenotypes. Unless the status of the phenotype is marked as final, these phenotypes cannot be viewed in-depth until the author has shared access with you and you have logged into PheKB. Click on an author's name to send an email to him or her expressing your interest in collaborating.
| Title | Institution | Phenotype Attributes | Description | Status | Contact Author | Type of Phenotype |
|---|---|---|---|---|---|---|
| Bipolar (BD) MGB Biobank | Mass General Brigham | ICD 10 Codes, ICD 9 Codes, Medications | Algorithm to identify bipolar disorder developed at MGB and tested at VUMC and Geisinger. | Testing | Vivian Gainer | Disease or Syndrome |
| Breast Cancer | CPT Codes, ICD 10 Codes, ICD 9 Codes, Laboratories, Medications, Natural Language Processing | 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. | Final | Ning Sunny Shang | Disease or Syndrome | |
| Depression | KPWA/UW | CPT Codes, ICD 10 Codes, ICD 9 Codes, Medications | Depression accounts for substantial morbidity and mortality worldwide and risk of experiencing it may have a genetic component. Depressive disorders manifest along a gradient from mild to severe.[1] Electronic health record (EHR) data linked to large, multi-site biobanks[2] facilitate exploration of the genetic component of depression. | Final | David Carrell | Disease or Syndrome |
| Diverticular Disease Severity, Left Colonic | Vanderbilt University Medical Center | CPT Codes, ICD 10 Codes, ICD 9 Codes | This algorithm builds off prior phenotyping work from Pacheco & Thompson available in the PheKB phenotype "Diverticulosis and Diverticulitis" as well as the manuscripts from Joo et al (2023)(1) and De Roo et al (2023) (2) . | Final | Thomas Ueland | Disease or Syndrome |
| Ovarian/Uterine Cancer (OvUtCa) | KPWA/UW | CPT Codes, ICD 10 Codes, ICD 9 Codes, Laboratories, Medications, Vital Signs | The KPWA/UW-led ovarian/uterine cancer phenotype has been validated at Mayo Clinic, the secondary phenotype development site. Validation results at both the primary and secondary sites were strong and the phenotype is ready for network wide implementation. The pseudo code document posted 11/30/2017 is correct as is and should be used by network sites for phenotype implementation. A validated | Final | David Carrell | Disease or Syndrome |
| Systemic lupus erythematosus (SLE) | Vanderbilt University Medical Center | ICD 9 Codes, Laboratories, Medications, Natural Language Processing | 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. | Final | April Barnado | Disease or Syndrome |
| Urinary Incontinence | Stanford University | CPT Codes, ICD 10 Codes, ICD 9 Codes, Natural Language Processing | Description of a weakly supervised machine learning approach for extracting treatment-related side effects (Urinary Incontinence) following prostate cancer therapy from multiple types of free-text clinical narratives, including progress notes, discharge summaries, history and physical notes. Prostatectomy surgery and radiation therapy are our treatments of interest for prostate cancer. | Final | Tina Hernandez-Boussard | Disease or Syndrome |