Identifying disease associated rare variants, however, is challenging, because a particular rare disease predisposing allele may be present in only a handful of patients.
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).
Both loop deletion variants, however, are not toxic to cells, even at 10 times higher concentration.
The apparent stabilities of the other variants, however, are significantly reduced: L38V and G93A are destabilized by 4 kcal mol−1 compared to WT, while A4V and L106V are further destabilized by approximately another 3 kcal mol−1 (Table 1).
The functional consequences of the more conservative CD1 changes in amphioxus variants, however, are unclear.
These discovered variants, however, were not validated in parallel using Sanger sequencing.
The remaining three variants, however, were found in specific ethnic groups.
Most of these variants, however, are rare (<1 % frequency) or have only been identified at the single individual level (94.3 % variants).
The splice variants however, were detected in only one of the 22 normal breast tissues tested, that is, in a sample remote from a carcinoma.
Both variants, however, are also present within the DNA-dense chromocenters, as shown by their yellow staining in the composite image.
Several potentially significant genetic variants, however, were identified within either HNF1A, PDX1, and/or PAX4 that in aggregate represented 30% of case subjects.
