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For example, only exon 9Aii and exon 8' splice variants contain a full protein coding region, whereas all other alternate splice variants introduce a premature stop codon.
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Using this approach, all genes where a variant introduces a stop codon in at least one transcript variant are reported.
For example, the G117H hBChE variant introduces a relatively large histidine side chain into the oxyanion binding region of the active site of the WT enzyme.
The variant introduces a premature nonsense codon before the amino acids encoding the basic region leucine zipper (BRLZ) and transmembrane (TM) domains (Fig. S3).
In order to assess the predictive utility of our method in both coding and non-coding regions of the genome, we further split our pathogenic and control datasets according to whether or not the variant introduces an amino acid substitution.
Our definition of 'predicted deleterious' includes variants that introduce a frameshift, in-frame indels, stop codon changes, missense variants, splice site variants (up to two bases into an intron or which are predicted by MaxEntScan (56)) and variants which are reported in HGMD (version 2014.4).
To discriminate genuine mutations from variants introduced during PCR or sequencing, a variety efforts have been made from sample processing to data analysis [ 46- 50].
The observed effects generally can be correlated with the electronic nature of the molecular variants introduced.
However, the presence of p53 mutant variants introduces additional oncogenic layers to the cell stress response.
The latter identifies false variants introduced by the random hexamer priming during the library construction.
An invasion process the competition between the resident population and the variants introduced by mutation.
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