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What will validation validate?

Extended Data Fig. 3 Validation of recurrent CNVs.

In real-life PV practice, signal detection and validation are recurrent periodic activities.

Five genes with SNVs in the discovery cohort were analysed for recurrent mutations in a validation cohort (n  = 24).

In real-life routine PV practice, signal detection and validation are recurrent periodic activities within the overall signal management process.

Twelve non-coding super-regions were found to harbor recurrent mutations in the validation cohort (Supp. Table S13).

We retrospectively simulated recurrent SDR calculation and validation with varying periodicity (quarterly vs. monthly), resignalling criteria, and N ≥ 3 vs. N ≥ 5.

In particular, TTP was defined as the time from day 1 of treatment until clinical progression, i.e. the timing of a more than 25% increase in post-therapeutic volume (determined 6 8 weeks after end of treatment) in any tumor lesion, or histopathological validation of recurrent disease after a CR.

Sporadic hemangioblastomas in the validation cohort display recurrent loss of heterozygosity of chromosome 3p.

Exome sequencing was performed to identify somatic mutations in tumour tissues of 22 patients with CRC, followed by validation of 187 recurrent and pathway-related genes using targeted capture sequencing in additional 160 cases.

As an example, a validation study of recurrent venous thromboembolism tested different algorithms based on the inpatient vs outpatient diagnoses, presence or absence of an ultrasound or computed tomography (CT) scan during admission, and postdischarge anticoagulant drug use.