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We first tested for internal concordance in genotype classification, comparing genotype calls made with reduced probesets to the full probeset of 20 features (5 positions, 2 strands, 2 alleles).
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Density measurements were made by a single experienced radiologist and showed a high degree of internal concordance [ 13].
Secondly, IMPUTE v2.2.2 'leave one out' internal concordance check gave 86.3% concordance at SNPs r ≥ 0.3 and 90.1% concordance at SNPs r ≥ 0.9 with the 114 SNPs on the iCOGS chip across all 44 621 samples (for a full breakdown by r, see Supplementary Material, Table S6).
The IMPUTEv2 "leave-out" internal concordance check gave 98.2 % concordance at SNPs with r ≥ 0.8 for SNPs on the 1000 Genomes reference panel but not on the additional in-house panel, and 99.2 % for those SNPs also on the in-house reference panel.
In general, these studies show good agreement between patients and proxies concerning observable behavior (such as physical function), but levels of concordance tend to be lower for internal perceptions such as energy level or emotional well-being [ 10].
We evaluated the previously validated Reflux Disease Questionnaire (RDQ) for internal consistency, reliability, responsiveness to change during treatment and the concordance between RDQ and specialty physician assessment of symptom severity, after translation into Swedish and Norwegian.
IMPUTE2 metrics for internal cross-validation of existing sample genotypes against imputed values indicated that imputation was successful (>95% overall concordance; Supplemental Table 1).
But his analysis was for internal consumption.
Institutions use the results for internal diagnostics.
for internal use only.
For internal use only.
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