The contents of medium-copy (frequency 11 100) and high copy (frequency >100) clones are only 1.7% among the 7400 non-redundant clones.
In this study of 7655 Hispanic individuals, the observed SMN1 1-copy frequency did not differ significantly from that observed in our earlier study of 1030 individuals (P=0.1869).
Possibly this high multi-copy frequency could have arisen during the two step zeocin selection due to posttransformational vector amplification which has been reported to occur when subjecting recombinant P. pastoris clones to gradually increasing concentrations of antibiotic [ 43].
In the Asian carrier-screening population, pair-wise comparison of observed SMN1 1-copy frequency between our current data set (n=4647) and those of our earlier study (n=1027), as well as studies in native Chinese (n=1712) and Korean (n=326) populations, also did not yield significant differences at 1% (P-values=0.7776, 0.0366, 0.5674, respectively).
When we compared our copy-number frequencies with copy-number frequencies in a study (2) reporting integer copy numbers for each of the overlapping CNV regions, the frequencies were fairly close to each other [60% of the CNV regions had lower than 0.05 in the total variation distance between population frequencies (11, 32)].
For the special case of real constellations, we consider a frequency domain widely linear equalizer which jointly filters the complex-valued received signal and its complex-conjugated and frequency reversed copy in frequency domain (see Figure 2).
In 80% of the remaining 20 cases (16/20), the copy number frequencies we obtained matched with the available population data; while in the other 4 cases the information we obtained did not agree with what it had been published beforehand.
FCGR3A copy number frequencies are similar between healthy European individuals (24, 27) and healthy Taiwanese individuals.
To dissect the variation between populations, we plotted the first two principal components of the diploid copy number frequencies for each population (Fig. 3A).
Fisher's exact test for count data and Pearson's χ test with simulated P-value (based on 10 000 replicates) were applied when appropriate for measuring significant differences in gene copy number frequencies or pathway representation.
