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As expected given our mapping and analysis strategy, the methylation differences we observed are not due to absence or major sequence alteration of the TE.
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In all cases the annotated TE is present at the same genomic location as in Col and contains a few SNPs but no major sequence alterations.
A major challenge of such studies is discriminating true mutations from the large number of possible sequence alterations identified.
The 273-kb designer chromosome contains more than 50,000 sequence alterations, and is 14% shorter than the natural sequence.
Schwarz, J.M., Rödelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations.
In contrast, no potentially pathogenic sequence alterations were detected in the related gene TGIF2.
Results: No sequence alterations in the coding or splicing regions showed an association with high myopia.
Schwarz, J. M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations.
Sequence alterations of different short segments of the 41 60 region gave moderate arrest defects (Figs 1C, 3C and 5A).
The cleavage rate constants increased for substrates with 5' sequence alterations that reduced ground-state binding to the ribozyme.
No sequence alterations were found.
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