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 McArthurPublished 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.