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Second, the target SNP should have no variants in its flanking sequences where the genotyping primers must hybridize.
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Thus, an individual with a 'C' at this position would have no variant detected at all in Sanger sequencing data but the same individual would have a nonsynonymous variant c.7397T>C_p.Val2466Ala called in NGS data.
We expect that additional aneurysm-associated genes will be detected in the future because the majority of familial AAA patients had no variants in the examined genes.
We found that indeed several of the CNRs (five in Jun D, one in c-Jun, and five in CEBPb) colocalized with such DNAse1 sites (supplementary table S3, Supplementary Material online), of which some (2/5 in JunD, 1 in c-Jun, and 2/5 in CEBPb) either had no variants or had only tip variants, which is consistent with the effect of negative selection, thus implying potential functionality.
In contrast to JSM2, 72% of Strelka's unique output had no variant base in the normal sample.
Conversely, do genes that have no AS variants tend to have single promoters?
The remaining 1181 human genes and 1904 mouse genes (Table 1: Others) were those that have no AS variants in one or both of the databases.
What is most striking is that both copies of arcA have no nonsynonymous variants in the entirety of their coding sequences in all of the 15 sequenced strains.
Patient 2 shows contrasting results: the rifampicin mono-resistant isolate, R912, was shown to have no heterogeneous variants while its follow-up MDR isolate, R1210, harboured 5 (Fig. 3b).
The false negative rate for all exons in all fourteen DNA samples was zero, ie samples with normal melt profiles were found to have no sequence variants on sequencing.
There are 444 genes in HDAM have no allelic variant records in OMIM.
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CEO of Professional Science Editing for Scientists @ prosciediting.com