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Exploring the feasibility and utility of exome-scale tumour sequencing in a clinical setting.

Belinda LeeBen TranArthur L HsuGraham R TaylorStephen B FoxAndrew FellowesRenata MarquisJennifer MooiJayesh DesaiKen DoigPaul EkertClara GaffDishan HerathAnne HamiltonPaul JamesAndrew RobertsRay SnyderPaul WaringGrant McArthur
Published in: Internal medicine journal (2018)
ESS of tumour DNA impacted clinical decision-making in 53%, with 20% more pathogenic variants identified through ESS than TS. The identification of germline variants in 47% was an unexpected finding.
Keyphrases
  • copy number
  • dna methylation
  • single molecule
  • oxidative stress