Some of the earliest studies of cancer genomes in AML noted that, within a single patient, there were subsets of mutations present at
lower allele frequencies, suggesting that they're not present in all cells.
Not exact matches
Instead, spontaneously transformed cells arose from the heterozygotes at a
low frequency, and the majority of these cells had amplified the mutant
allele.
However, most point mutations occur at
low frequency, and the function of these
alleles remains undefined.
In unadjusted chi2 analyses, the
frequency of the minor Ser482
allele was significantly
lower in cases than in controls (29.1 vs. 40.0 %; P = 0.01).
We tested the hypothesis that the
frequency of the minor Ser482
allele at the PPARGC1A locus is
lower in World - class Spanish male endurance athletes (cases)[n = 104; mean (SD) age: 26.8 (3.8) yr] than in unfit United Kingdom (UK) Caucasian male controls [n = 100; mean (SD) age: 49.3 (8.1) yr].
We performed two statistical analyses to support the genetic evidence that indels at this locus, including those observed at
low frequency in cfDNA, were likely to represent bona fide reversion
alleles.
Yet each one tells a different story: (a), how novel - to - dbSNP variants were rare; (b), how nonsynonymous variant
frequencies are shifted to
lower values relative to those of synonymous variants, (c), how this shift in
allele frequencies is more pronounced for damaging nsSNPs, consistent with natural selection, and (d), how the sizes of observed indels are enriched for non-frameshift events divisible by 3.
The differences between the samples are highest in
low -
frequency alleles and decrease with increasing
allele frequency.
Please note... there is no estimate of the
frequency of the false
allele at this time, although it is much
lower with the recently improved tests.
Nations with a higher
frequency of S
allele carriers showed a
lower prevalence of anxiety (r (12) = − 0.55, p < 0.03) and mood disorders (r (12) = − 0.52, p < 0.05).