Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

HIGHLIGHTS

• who: Lynne J. Hocking from the DNA sampling and genome sequencing DNA was extracted from blood, or occasionally saliva, in Regional Genetics Laboratories in Aberdeen, Dundee, Edinburgh and Glasgow using routine ISO, :, accredited processesMinimum quality and quantity standards were , u00b5g at , ng/u00b5l with, /, ratio u22651., and no evidence of degradation, with no smearing seen when run on, .8-1% agarose gels against a, kB ladder, TapeStation, Bioanalyser (Agilent), Fragment Analyser (VH Bio) or Caliper GX or GX Touch (PerkinElmer). Pseudonymised DNA aliquots were sent to Edinburgh Genomics ISO, :2005-accredited facility at University of Edinburgh, for . . .
  

   

  

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