Important definitions
Actionable mutation	A mutation that is potentially responsive to a targeted therapy
Coverage (in NGS)	(Or depth) the number of reads per nucleotide
Cistrome	The set of (cis-acting) DNA sequences targeted by a specific transcription factor
Depth	(Or coverage) the number of reads per nucleotide
Diagnostic yield	The likelihood that a given test will return information that helps establishing a diagnosis
Driver mutation	A somatic mutation OCCURRING in cancer that is implicated in oncogenesis
Driver gene	A gene where driver mutations are frequently found
Effect-size (of a gene variant)	The measurement of the magnitude of the effect of a gene variant
FastQC	Application handling raw-sequence data from high throughput NGS sequencers
Genetic risk modifier	A gene variant with no intrinsic pathogenic action and a small effect-size, but that can modify the penetrance of a co-existing pathogenic mutation
Passenger mutation	A somatic mutation (found in cancer but not only) that has no implication in oncogenesis and does not give growth advantage
Penetrance (genetics)	The proportion of INDIVIDUALS carrying a gene variant (or mutation) and expressing the phenotype associated to the variant
Sequencing by synthesis (in NGS)	method developed by Solexa® and currently used by Illumina® in which each dNTP with a fluorescent reversible terminator is added separately, then is cleaved to allow the incorporation of the next base
Single molecule real-time (in NGS)	In this method, several DNA polymerase enzymes are contained in separate nanophotonic structures where a single stranded DNA is also incorporated. DNA synthesis is made using differentially labeled nucleotides
Specificity (in NGS)	The amount of regions of interest (ROI) theoretically captured for a NGS analyses that are correctly enriched and sequenced
Spliceogenic variant	A gene variant causing a splice alteration
Targeted re-sequencing	Isolation and sequencing of a subset of genes or regions of interest. Different approaches can be used (see the text)
Theranostic	This is a sort of diagnostic test that can be used to select a targeted therapy
Translatome	All mRNA fragments that are translated in a moment or in a condition.
Variant of undetermined/unknown clinical significance (VUS)	A rare genetic variant for which pathogenicity was neither confirmed nor excluded