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Our work is complementary to the others described above in the sense it uses mutations to evaluate the capability of static analyzers in detecting such mutations.
In this study, we have performed systematic and rigorous computational analyses of human aaRSs disease-associated mutations to evaluate their evolutionary, structural and functional characteristics.
In this study we used the family histories of a large tested cohort, some with known BRCA germline mutations, to evaluate the clinical effectiveness of four risk prediction models for BRCA mutations.
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We also measured the distribution of the RNase L QQ mutation to evaluate the association of XMRV with this mutant allele [7].
We analyzed the models that included mutation to evaluate how accurately students incorporated the concept into their models.
We analyzed the change in charge, which occurred due to the mutation, to evaluate whether the mutations increased or decreased the charge in the cleft between the two monomers of DsbG (the cleft in DsbG is more charged compared with DsbC).
Thus, the objectives of this study were to develop a reliable method to detect SQSTM1/P392L post-zygotic mutations and to evaluate the frequency of this post-zygotic mutation in PDB.
Our aims were: (1) to identify all mtDNA variants and potential mutations; (2) to evaluate variant detection performance by comparing Roche 454 pyrosequencing and Sanger sequencing technologies; and (3) to estimate the amount of sequence coverage needed to detect homoplasmic and heteroplasmic mtDNA mutations or variants.
To date, the use of TET2 mutations status to evaluate the response to DNMT inhibitors is still debated [ 130, 131].
In this retrospective study, high-resolution melting analysis (HRMA) was validated and implemented for screening of 164 colorectal cancer (CRC) patients to detect KRAS hot-spot mutations and to evaluate its prognostic value.
Although future studies are needed to examine the germ line transmission and heritability of the CRISPR/Cas-induced mutations and to evaluate any potential off-target effects of the CRISPR/Cas, our results here suggest that the CRISPR/Cas technology will make targeted gene editing a routine practice not only in model plants but also in crops.
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CEO of Professional Science Editing for Scientists @ prosciediting.com