Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.
Lisa BastaracheJacob J. HugheyJeffery A. GoldsteinJulie A. BastraacheSatya DasNeil Charles ZakiChenjie ZengLeigh Anne TangDan M. RodenJoshua C. DennyPublished in: J. Am. Medical Informatics Assoc. (2019)
Keyphrases
- chronic disease
- high risk
- risk factors
- cardiovascular disease
- medical doctors
- multiple sclerosis
- medical practitioners
- patient groups
- early diagnosis
- clinical studies
- risk assessment
- amyotrophic lateral sclerosis
- clinically relevant
- emergency department
- risk management
- health care
- acute coronary syndrome
- diagnostic tool
- gene expression
- disease progression
- diabetic patients
- cancer patients
- patient data
- clinical data
- chronic obstructive pulmonary disease
- medical data
- magnetic resonance images
- clinical trials
- white matter
- disease diagnosis
- visual field
- liver disease
- computer aided
- kaplan meier
- infectious disease
- microarray