From SNP Genotyping to Improved Pediatric Healthcare
SNP genotyping arrays have become an important tool for cohort identification and stratification, phenotype-genotype association studies, discovery of disease markers, prediction of molecular phenotypes, and clinical decision support. In this chapter, large-scale SNP genotyping and the resulting informatics challenges are discussed in the context of basic as well as translational studies. Tailored research informatics solutions and integration with clinical informatics systems are illustrated using several specific examples of applications, including: (i) cohort stratification analysis; (ii) prediction of classical HLA alleles from SNP data in the context of pediatric autoimmune diseases; and (iii) predictive decision models for the management of surgical pain and avoidance of opioid-related adverse outcomes in children.
KeywordsObstructive Sleep Apnea Human Leukocyte Antigen Juvenile Idiopathic Arthritis Clinical Decision Support System Single Nucleotide Polymorphism Genotype
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