Phenotype Description: individuals with sensorineural hearing loss (SNHL)
Below are algorithms used to identify individuals with SNHL at BioVU. If you have questions regarding any of the information presented on this page, you may contact either:
Wei-Qi Wei at wei-qi.wei@vanderbilt.edu or Joshua Denny at josh.denny@vanderbilt.edu
Algorithm to identify patients with low levels of high-density lipoproteins (HDL).
FLOWCHART of HDL Phenotyping Process
Project Outline: Selection of all Caucasian patients with hypothyroidism without a secondary cause of surgical removal or radiological ablation. The search is designed to eliminate subclinical hypothyroidism (by requiring that patients be on a replacement medication), medication-induced hypothyroidism (e.g., PTU, lithium, or history of amiodarone), and transient causes (e.g., pregnancy or subacute thyroiditis).
Migraine is the most common recurrent headache syndrome in children in which 4-10% of school age children may be affected (1). It is characterized by episodes of headache pain that may be accompanied by nausea, vomiting, and light and sound sensitivity. Migraine occurs at all ages and may even begin in infancy as represented by intermittent colic (1). The genes for familial hemiplegic migraine have been identified.
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 data dictionary of covariates for this phenotype will be added to PheKB by 2/15/2018, but sites are encouraged to begin implementing the phenotype algorithm now.
Food allergy is defined as an immune response that occurs reproducibly to a given food, typically an immunoglobulin E (IgE)-mediated clinical reaction to specific protein epitopes. Over the last 20-30 years, food allergy has grown into a major public health problem. Peanut allergy is a common type of food allergy that accounts for a disproportionate number of fatal and near-fatal anaphylactic events amongst all the common food allergens.
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.
