Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD)
Non-alcoholic fatty liver disease (NAFLD)
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Final
Adult
Ovarian/Uterine Cancer (OvUtCa)
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.
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Final
Peanut Allergy
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.
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Final
PGx medication risk prediction model
This algorithm predicts those who are going to be exposed to warfarin, simvastatin, or clopidogrel as three medications that have known pharmacogenomic influences. This algorithm was used to select individuals for the Vanderbilt PREDICT (Pharmacogenomic Resource for Enhanced Decisions in Care & Treatment) program, which prospectively tests individuals at risk of needing medications whose efficacy is effected by genetic variants.
For more information on PREDICT, see http://mydruggenome.org.
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Final
PhEMA BPH (Benign Prostatic Hyperplasia) cases
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:
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Final
Pneumonia- VUMC eMERGE v5.1
Identify bacterial pneumonia, similar to that reported with genetic association risk in CD143 and TLR4 A229G in literature.
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Final
Post-event Pain algorithm
Pain is a personal, multidimensional experience in which genetic biomarkers has a main role in determining pain sensitivity, perception and tolerance. Pain is a major concern for surgical patients and post-operative pain management still present a major challenge both in inpatient or outpatient settings. Apart from genetic factors, there are many other variables that may affect pain perception for example, pretreated patients may require less post-surgical medications, and they may recover more quickly.
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Final
Resistant hypertension
This algorithm describes the ongoing resistant hypertension algorithm used in eMERGE, which was a network phenotype within the eMERGE-I and eMERGE-II sites.
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Final
Rheumatoid Arthritis (RA)
This rheumatoid arthritis (RA) algorithm was created using a machine-learning logistic regression model.
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Final
Rheumatology Auto-Immune characteristics
Dear,
To identify cases with auto-immune rheumatologic phenotye (for NT198) we request information about auto-antibody (whether it was tested and what the restults were) and drug information (whether it was prescribed) for each patients that is enrolled in eMERGE. We are requesting every mention of any of the expanded generic drugs.
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Final