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Our study also reveals that the cause of JBTS has been elucidated in the great majority of our FC subjects (33/35 [94%] families), even though JBTS shows substantial locus and allelic heterogeneity in this population.
A proliferation of recent genetic investigations and reviews suggest that multiple rare allelic and/or structural variants and therefore an architecture characterized by substantial locus and allelic heterogeneity may explain a substantial proportion of susceptibility to major neuropsychiatric disorders [3], [4], [79], [82], [83], [84], [85].
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Nevertheless, the interesting findings from these meta-analyses is complementary to recently published gene-based approach that was used to analyze primary GWAS data in ways that allow for substantial allelic and locus heterogeneities [ 25- 27].
A gsi of 1 (= monophyly) was only estimated for several taxa for the cytb locus and for E. mongoz for the eno and vwf loci and for E. rubriventer and E. coronatus for the vwf locus, indicating substantial incomplete lineage sorting for our genetic loci.
Do, C.B. et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
High quality PCR primers were designed for a substantial number of the SSR loci, and a large number of these were amplified successfully in initial screening.
The chromosomal regions of substantial SD loci found in this study were compared to the regions with quantitative trait loci (QTLs) underlying hybrid sterility/fertility and gametophyte genes reported in previous studies on rice.
Since primary colonic epithelial cells were not readily available, we screened for colorectal cancer cell lines that do not have substantial DNA methylation at CIMP-defining loci and carry wild-type forms of both BRAF and KRAS.
More generally, we found substantial among-locus variation in cline estimates (Fig. 3, Additional file 4: Table S1), which may also stem from drift, since outliers were not the same between transects, although one cannot rule out differential selection acting on individual markers, especially given that the ecological context, and thus the nature of selection, may differ between transects.
These loci exhibit substantial polymorphism within and between populations.
Our results show that accounting for multiple variants at a locus will increase the variance explained in a substantial fraction of loci, but that allelic heterogeneity will be difficult to define without resequencing loci and functional work.
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