For a description of the two sites see Table 1 and for the sequence of case study activities see Table 2.
The different local and regional deployment strategies, combined with the limited active deployments at the time of the fieldwork, resulted in a decision to move from comparative evaluation (before-after and between sites) to a linked sequence of case-based studies developing depth of insight into how the multiple NHS CRSs were made to work (to degrees) locally.
Consider a test in which individuals are simply scored as to whether or not they exhibit a specific variant, and that the variant came to our attention through sequencing of cases, but not controls.
Highly sensitive detection methods [25] now make it possible to follow the sequencing of cases and controls by probing for additional instances of the newly detected variants in a very large number of individuals through the use of a feasible number of pooled samples.
There were only seven unique blocks each with three different sequences of cases.
As described in full elsewhere [ 9, 12], the Scan (or "moving window") method [ 14, 15] runs a window of from 5 to (n − 2) cases, where n is the total number of cases, across the time period of analysis, and, by comparison with simulated data, detects sequences of cases that occur in a shorter time period than would be expected by chance (p < 0.05).
An inherited rare variation, which can be investigated through both trio sequencing and the sequencing of cases and controls, is among the most difficult type of event to interrogate given the combination of low frequency and, on average, small effect size [ 28].
Under this model, the most cost-effective strategy for fine mapping would focus on assaying coding variation, which can most comprehensively be achieved through whole-exome re-sequencing of cases and controls, and will provide a complete catalogue of protein altering variants across the genome.
Given our definitions and the case sequence, 51.2%% of cases in which a diagnostic error occurred were associated with one or more of the measured biases (Table 6).
