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Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

Elizabeth M J LeeKaren XuEmma MosbrookAmanda LinksAmanda E LinksDavid R AdamsElise FlynnElise D FlynnCamillo ToroCynthia J TifftCornelius F BoerkoelWilliam A GahlMurat Sincan
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
Despite the small size of the NIH UDP patient cohort, we identified pharmacogenetic incidental findings potentially useful for guiding therapy. Consequently, groups conducting clinical genomic studies might consider reporting of pharmacogenetic incidental findings.Genet Med 18 12, 1303-1307.
Keyphrases
  • case report
  • quality improvement
  • emergency department
  • copy number
  • dna methylation
  • bone marrow
  • case control
  • replacement therapy