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However, until we have a more complete understanding of the mutation spectrum in individual genes, targeted diagnostic sequencing would be a follow-up tool to screening with the APEX assay, for individuals in whom a single pathogenic mutation was found in a gene on the array.
As a result, a deeper understanding of the mutation rate patterns along germline development is achieved.
Specifically, robust evolutionary analyses depend on an understanding of the mutation patterns of different regions of the genomes (Lynch 2007).
Yet, despite the importance of the mismatch repair mechanism, we have an incomplete understanding of the mutation rate and spectra associated with defects in mismatch repair.
In this work, we studied the LoF and GoF mutation properties, and we expect that this study can contribute to better understanding of the mutation effects on the biological systems.
Consequently, the analysis to which extent a mutation affects protein stability with respect to the wild type, extends the understanding of the mutation impact on protein function and the genotype-phenotype relationship, accordingly.
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The future of treating this disease therefore lies in increasing understanding of the mutations which cause tumourigenesis, and insight into the development and progression of this complex disease.
Resequencing studies of protein kinase coding regions have emphasized the importance of sequence and structure determinants of cancer-causing kinase mutations in understanding of the mutation-dependent activation process.
Structure-based functional annotation and prediction of cancer mutation effects in protein kinases can facilitate an understanding of the mutation-dependent activation process and inform experimental studies exploring molecular pathology of tumorigenesis.
Differential identification of the IDH1R132H mutant cellular components is of particular importance for understanding of the mutation-associated tumor biology.
Recent developments in genomic sequencing have advanced our understanding of the mutations underlying human malignancy.
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