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Then SNP markers with minor allele frequency (MAF) above 0.10 and locate no more than 250 bp from the repeat sequence of STR markers were screened from SNP database.
The authors have determined the extent of LD among 38 biallelic markers with minor allele frequencies >.1, since these are most comparable to the common disease-susceptibility polymorphisms that association studies aim to detect.
After excluding markers with minor allele frequency below 5%, 5,221 high-quality SNP markers were left for further analyses.
SNP selection criteria only considered functional markers with minor allele frequencies above 0.05 and at least two independent validation criteria as established in dbSNP [37].
From the simulated data, we retained markers with minor allele frequency (MAF) ≥1%.
The SNP markers with minor allele frequency (MAF) < 0.03 were discarded, since they have little polymorphism.
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Among these markers, 80,880 with minor allele frequencies (MAF) <0.05 were removed, and the remaining 144,131 SNP markers were further mapped onto specific genomes.
Power analysis revealed that the discovery cohort KORA S3 was underpowered for the detection of associations with markers with low minor allele frequency (MAF<0.1) (Figure 3A) and/or small effect size (<3 mmHg for SBP) (Figure 3B).
Only three studies report marker filtering according to some minor allele frequency threshold ([ 18, 26, 27]; the latter study excluded singleton loci only, i.e., markers with the minor allele occurring only a single time).
Supplementary Figure 3 PCA with 15,872 markers with a minor allele frequency ≧ 5%%.
To account for markers with low minor allele frequency (MAF) we employed r2 as measure of LD throughout and considered an r2 value of 0 to 0.5 as low, 0.5 to 0.75 as intermediate and >0.75 as strong LD.
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