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Moreover, most variants are very rare in the general population and would not be identifiable even in a large sample size as ours.
Most variants are predicted above 95% accuracy.
We report, for the first time, that most variants are organized into large single-mutation connected components.
Since most variants are classified as pathogenic only on the basis of their presence in the patient, there are only a few well-documented POLG mutations.
Overall, this is a consequence of most SNPs being redundant because of linkage disequilibrium and because they are not very informative, since most variants are rare.
SSL-10 is part of a large family of related ssl genes, which vary substantially between lineage, and the binding ligands of most variants are unknown.
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Our library size approaches the theoretical one suggesting that most variants were indeed present in the starting repertoire.
The expression patterns of most variants were in accordance with those of known miRNAs (Additional file 7: Table S6).
Most variants were present in both sequencing duplicates, with the highest proportion of shared variants on the Illumina MiSeq (Table 7).
This was paralleled by a complete rescue of FIX activity (Fig. 7D), which for most variants was higher than that measured for the pBsKFIX wt construct.
Most variants were located outside the gene loci with only a smaller fraction harbouring SNPs or indels inside their coding sequences (Tables 2, 3 and 4).
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