Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.

Academic Article


  • A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we obtained a 14% (3/22) diagnosis rate over 2 years; with subsequent reanalysis, this increased to 36% (8/22). Disease causing variants were identified in SKIV2L, CECR1, DGKE, PYCR2, RYR1, PDGFRB, EFTUD2, and BCS1L. In 75% (6/8) of diagnosed cases, the diagnosis affected treatment and/or medical surveillance. Additionally, one case demonstrated a homozygous A18V variant in VLDLR that appears to be associated with a previously undescribed phenotype.
  • Published In


  • clinic, diagnosis, genome, sequencing
  • Digital Object Identifier (doi)

    Author List

  • Bick D; Fraser PC; Gutzeit MF; Harris JM; Hambuch TM; Helbling DC; Jacob HJ; Kersten JN; Leuthner SR; May T
  • Start Page

  • 61
  • End Page

  • 76
  • Volume

  • 6
  • Issue

  • 2