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NGS=next-generation sequencing.
1. Frampton GM et al.
Nat Biotechnol
. 2013;31(11):1023-1031. 2. Zehir A et al.
Nat Med
. 2017;23(65):703-713.
Factor
Parameter
Recommendations*
Preanalytical
Sample processing
•
Standardise sample processing protocols
•
Minimise interlaboratory variability
Sequencing
parameters
Genomic region covered
•
Select gene panels that screen for actionable mutations or biomarkers
•
Select panels with larger genome coverage (ideally 1 megabase or greater)
Bioinformatics
Standardisation
of workflow
•
Align panel-derived TMB values to a WES-derived reference standard to ensure consistency
regardless of the assay
•
Standardise mutation calling and filtering algorithms
Comparison
of results
Calibration of outputs
•
Ensure reporting consistency by developing templates for clinically meaningful reporting (eg,
report TMB as mutations per megabase)
•
Allow calibration of results from different studies