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Defects affecting at least three consecutive markers were classified as significant and, using these criteria, evidence of both genomic amplifications and homozygous deletions were observed (Figure 1A), which are summarised in Figure 1B.
In total 62/4300 (1.4%) markers were classified as intermediate.
Markers were classified as informative when PIC was ≥0.5.
Children with normal serological markers were classified as 'without celiac disease'.
A total of 99 markers were classified into 28 linkage groups spanning 2,172 cM.
Homozygous markers were classified as homozygous P1 or homozygous P2 based on the most frequent allele count.
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Positive staining intensity for cancer stem cell markers was classified as negative: − (<30%), weak: + (30 49%), moderate: ++ (50 74%), and strong staining: +++ (≥75%).
Discordance between imputed and genotyped markers was classified into three categories: (1) a heterozygote mis-called as a homozygote, (2) a homozygote mis-called as a heterozygote, and (3) a homozygote called as the opposite homozygote.
In the QOF, markers are classified according to the Donabedian framework [ 29] based on measurable items of care, either as structure (e.g. facilities), process (e.g. prescribing) or outcome (e.g. mortality).
Concentrations of each marker were classified as negative or positive on the basis of median and 30th percentile cut-off points for p53 and PSA respectively.
Each marker was classified as positive or negative based on the criteria described above and in Table 1.
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