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The analysed PbMut lines, however, shared a large proportion of variants, suggesting that the diverse population was not constructed after long-term passages in this study.
The fixation (AAF ≥ 0.9) of a large proportion of variants, however, is more pronounced within the inbred group as expected compared to the commercial chickens (Fig. 8).
A large proportion of variants in this class occur at a much lower frequency (<0.1%), and many thousands are likely to be specific to ethnic groups, isolates, families or even individuals.
The REFSEQ-normalised values show good agreement for indels (frameshift and nonframeshift), stop-gain, stop-loss and nonsynonymous variants, that is, a large proportion of variants given a particular annotation when using REFSEQ also get that annotation when using ENSEMBL.
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Possibly they will result in a larger proportion of variants being categorized as uncertain significance.
CYT B harboured the largest proportion of variants (9/39) whilst ND4 possessed the second highest proportion of variants (6/39).
Mechanism variants in late onset diseases may be subject to reduced selection pressure, with the result that methods for assigning impact based on sequence profiles yield a larger proportion of variants as low impact.
A much larger proportion of variants are likely to occur at sites where the effect on splicing is less obvious, for example at less conserved sites close to intron/exon boundaries, close to the intronic branch-point [ 7], or within intronic or exonic splicing enhancer or suppressor sequences [ 8].
In contrast to the recently described association of biallelic variants rs3798220 and rs10455872 with Lp(a) levels in Caucasian populations [2], no single common biallelic LPA variant explains a large proportion of variation in Lp(a) levels in African Americans.
Although the set of risk variants and their allelic effects may vary between populations, a large proportion of these variants were identified based on studies in populations of European descent.
First, the results suggest that a large proportion of coding variants will be present at a low frequency, with all but one of the 26 variants we identified in PDX1 in less than 1% of individuals.
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