From SNP Genotyping to Improved Pediatric Healthcare

  • Jacek W. Biesiada
  • Senthilkumar Sadhasivam
  • Michael Wagner
  • Jaroslaw Meller
Chapter
Part of the Translational Bioinformatics book series (TRBIO, volume 2)

Abstract

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.

Keywords

Obstructive Sleep Apnea Human Leukocyte Antigen Juvenile Idiopathic Arthritis Clinical Decision Support System Single Nucleotide Polymorphism Genotype 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  • Jacek W. Biesiada
    • 1
    • 2
  • Senthilkumar Sadhasivam
    • 3
    • 4
  • Michael Wagner
    • 1
    • 3
  • Jaroslaw Meller
    • 1
    • 5
  1. 1.Division of Biomedical InformaticsCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  2. 2.Division of Management and InformaticsTechnical University of SilesiaGliwicePoland
  3. 3.Department of PediatricsUniversity of Cincinnati College of MedicineCincinnatiUSA
  4. 4.Perioperative and Acute Pain Service, Division of Pediatric AnesthesiaCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  5. 5.Department of Environmental HealthUniversity of Cincinnati College of MedicineCincinnatiUSA

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