TY - JOUR
T1 - A highly specific algorithm for identifying asthma cases and controls for genome-wide association studies.
AU - Pacheco, Jennifer A.
AU - Avila, Pedro C.
AU - Thompson, Jason A.
AU - Law, May
AU - Quraishi, Jihan A.
AU - Greiman, Alyssa K.
AU - Just, Eric M.
AU - Kho, Abel
PY - 2009
Y1 - 2009
N2 - Our aim was to identify asthmatic patients as cases, and healthy patients as controls, for genome-wide association studies (GWAS), using readily available data from electronic medical records. For GWAS, high specificity is required to accurately identify genotype-phenotype correlations. We developed two algorithms using a combination of diagnoses, medications, and smoking history. By applying stringent criteria for source and specificity of the data we achieved a 95% positive predictive value and 96% negative predictive value for identification of asthma cases and controls compared against clinician review. We achieved a high specificity but at the loss of approximately 24% of the initial number of potential asthma cases we found. However, by standardizing and applying our algorithm across multiple sites, the high number of cases needed for a GWAS could be achieved.
AB - Our aim was to identify asthmatic patients as cases, and healthy patients as controls, for genome-wide association studies (GWAS), using readily available data from electronic medical records. For GWAS, high specificity is required to accurately identify genotype-phenotype correlations. We developed two algorithms using a combination of diagnoses, medications, and smoking history. By applying stringent criteria for source and specificity of the data we achieved a 95% positive predictive value and 96% negative predictive value for identification of asthma cases and controls compared against clinician review. We achieved a high specificity but at the loss of approximately 24% of the initial number of potential asthma cases we found. However, by standardizing and applying our algorithm across multiple sites, the high number of cases needed for a GWAS could be achieved.
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M3 - Article
C2 - 20351906
AN - SCOPUS:79953787305
SN - 1559-4076
VL - 2009
SP - 497
EP - 501
JO - AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium
JF - AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium
ER -