These results suggest that our reporter vector can be used to monitor the differentiation into CD34+ HPSCs from hESCs/hiPSCs, and to isolate low frequency populations of cells based upon the differential expression of EGFP and mCherry.
People with diabetic pets constitute a low-frequency population whose members are geographically disperse and largely nonassociative, meaning that few members know each other personally and that no registry exists [ 2].
However, an alternative model is that the balance of the variation is not accounted for by common genes of smaller and smaller effect size, but by a mixture of rare variants (population frequency of 0.001 or less) that have strong effects, and low frequency variants (population frequency 0.01 or less) that have intermediate effects.
We also agree that contaminating cells can be an issue when sorting a low frequency cell population (less than 1% in this case).
Indeed, because we have analyzed 799 samples, some of these CNVs could be low frequency or population specific variants which went undetected in previous studies with smaller sample sets.
The presence of tetramer‐binding TAA‐specific CD8+ T cells after in vitro expansion, but not ex vivo (data not shown), indicates proliferation of a very low frequency precursor population.
In addition, a candidate variant responsible for a rare disease should be found at a low frequency in population controls, consistent with the proposed model of inheritance and disease prevalence.
We then established eight low frequency (LF) populations (initial DDT-R allele frequency 10%%), two mid-frequency (MF) populations (initial DDT-R allele frequency 50%%) and two high frequency (HF) populations (initial DDT-R allele frequencies 90%%) as follows.
Therefore, most likely purifying selection is responsible, with numerous slightly deleterious substitutions present at low frequency in populations, but which are prevented from going to fixation.
This model predicts that most elements are deleterious and segregate at low frequency in populations.
A small effect size might be sufficient to maintain the allele at low frequency in populations.
