The standard interpretation of a left-skewed SFS is that purifying selection acts on deleterious variants, limiting their population frequencies.
On the other, this evolutionary process leads to employment of many different protocol variants, limiting comparison of the study results obtained by different laboratories.
These two recent Arabidopsis studies, however, used the array-based genotyping approach, and rare variants (i.e., MAF < 5%) accounted for only 4.7% of all the SNP variants, limiting rare variant analysis.
For common diseases, the observed small effect sizes of individual gene variants limit diagnostic potential, and given that most variants identified have an unclear function, how to target the corresponding gene for therapeutic intervention is typically unclear.
Even if having functional effect on the ATM protein and possibly being pathogenic, the rarity of these variants limits any potential contribution to breast cancer susceptibility.
Given the authors' argument that flexibility is linked to activity (and increased activity is demonstrated) I think some results relating to the increased flexibility of the variants (limited possibly just to the main 3 mutants) should be explicitly provided.
These extensive sequence data also suggest that the significant variation in Wolbachia prevalence among fire ant populations most likely is due simply to the presence of different variants limited to specific regions of S. invicta's range, but roles for both host effects and the environment in accounting for the observed patterns cannot be excluded.
Importantly, the imputation error rate increases as the minor allele frequency decreases due to reduced LD of rare variants with surrounding common variants, thus limiting the use of imputation for studies focusing on rare variants.
For the His174Ala variant, a limiting reductive rate of 0.08 ± 0.01 s–1 was determined, which is an ∼1300-fold ∼1300-foldn kredecreaseed to that of the wind type (kred = 103 ± 4 s–1).
The panels are normalised to β-actin allowing an assessment of the relative abundance of exon -1 to 4 splice variants by limiting the number of PCR cycles.
