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The highest allele frequency of these null alleles was 39% at site 1066 in M. mulatta (Table 3).
These major haplotypes clustered into two frameworks, A and B, tagged by a set of fmSNPs having the highest allele frequency within the block (common and rare alleles are colored in green and red, respectively).
The highest allele frequency also reflected the degree of polymorphism due to high correlation with PIC.
For Uyghur, c.235delC also showed the highest allele frequency, followed by c.35delG.
Here, we use the CYP2D6*1 allele as the representative CYP2D6 allele because this allele has the highest allele frequency in human populations (Sistonen et al. 2007).
Among the three common mutations of GJB2 detected in Han Chinese participants, c.235delC showed the highest allele frequency, followed by c.299_300delAT.
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SNPs tagging such haplotype frameworks (fmSNPs) could generally be identified within defined LD blocks as the ones having the highest allele frequencies in African-ancestry populations.
The risk genotypes were defined by homozygous risk alleles (higher allele frequency in the high YZ score group than in the low YZ score group).
We found non-synonymous, high allele frequency differences (fixed for different alleles) at non-synonymous sites to be overrepresented in genes involved in immune response, anatomical development, behaviour, and sensory perception between commercial and local populations.
Boldface indicates protective alleles for which the Biaka had a higher allele frequency than the Mbuti.
L-shaped distribution of allele frequency is expected for stable populations whereas the loss of rare alleles in bottlenecked population should shift the mode toward high allele frequency.
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