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The results section should list variants using HGVS nomenclature (see Nomenclature section).
In order to store a minimal list, variants are selected per population and any other variants in high LD with this one are filtered out.
The quasi-experimental design of the SMARTSteps evaluation trial offers a useful illustration of the advantages and challenges of a wait-list variant of a stepped wedge design.
The second method will take advantage of the wait-list variant, stepped wedge design with study cross-over of participants from control to intervention [ 40].
This controlled quasi-experimental trial used a wait-list variant of a stepped wedge design to enroll 362 adult health plan members with diabetes who speak English, Cantonese, or Spanish and receive care at 4 publicly-funded clinics.
The study was a controlled quasi-experimental evaluation trial with a wait-list variant of a stepped wedge design (see Figure 1), which has been described previously in the implementation science literature [ 40- 42].
Because this study is a quasi-experimental evaluation trial with a wait-list variant of a stepped wedge design, analyses of outcome changes will be conducted with two distinct methodologies.
The parameters of the piecewise linear model can also be estimated when the test is applied in its multi-list variant (introduced in Kerschbamer, 2013 ) where the (x, y )-score is no longer available.
HGMD Professional now displays a frequency flag when a listed variant is also found in dbSNP, and population frequency data from the 1000 Genomes Project are also provided.
Throughout the study, subjects had to recall equivalent word-list variants, with no individual hearing the same list more than once.
Additional file 11: A table listing variants of uncertain significance identified in genes associated with autosomal recessive and X-linked recessive bleeding and platelet disorders.
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