To describe the global patterns of NAT2 haplotype and phenotype variation, we focused on the 99 population samples adequately characterized for the seven (or six for non-African samples) SNPs of NAT2 (see Materials and Methods).
Based on this distribution of genetic variation, we focused on discrimination of the 14 most frequent HLA-A, 23 HLA-B, and 12 HLA-C alleles that provide population coverage ranging from 80 to 90% in East African populations (see insets in Figure 1).
Due to the controversy over the topic of anatomic variation, we focused specifically on GISTs of the small intestine.
To further investigate the pan-genomic variation, we focused on the unique genes, on average 1,224 per B. rapa genome.
To test whether increased technical replication reduces technical variation, we focused on D. yakuba, which offers the greatest range of sequence divergence relative to D. melanogaster.
As the DNA methylation patterns are prone to individual and conditional variation, we focused on the analysis of the genes revealing the most distinguishing differences in the methylation status.
To identify cases of allele-specific expression, which provides independent but complementary evidence for functional cis-regulatory variation, we focused on genes for which multiple heterozygotes were identified for variants in the exonic regions of expressed genes.
While recent studies show that preference heterogeneity across countries explains little of this variation, we focus on two other important features: observation period and estimation method.
Since age and gender are the most important physiological correlates of BRS, explaining 52% of BRS variation [6], we focused our evaluation of TRS on age- and gender-related changes of BRS and frequency spectra in healthy individuals.
