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InpherNet accelerates monogenic disease diagnosis using patients' candidate genes' neighbors.

Boyoung YooJohannes BirgmeierJonathan A BernsteinGill Bejerano
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
InpherNet improves the state of the art in considering candidate gene neighbors to accelerate monogenic diagnosis.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • genome wide
  • gene expression
  • patient reported outcomes
  • dna methylation
  • copy number