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Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Ahmad N Abou TayounSaeed H Al TurkiAndrea M OzaMark J BowserAmy L HernandezBirgit H FunkeMichael J BamshadSami S Amr
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
Our study is, to our knowledge, the first to highlight the urgent need for defining the clinical validity of gene-disease relationships for more efficient and accurate clinical testing and reporting.Genet Med 18 6, 545-553.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • healthcare
  • dna methylation
  • emergency department
  • adverse drug
  • transcription factor
  • genome wide analysis
  • electronic health record