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Drawbacks intrinsic to conventional Sanger sequencing are the variable subjective interpretations of sequencing results, limited sensitivity for minor sequence variants, and cost.
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However, two genes can evolve asymmetrically for a fundamentally different reason: epistatic interactions among substitutions at different amino acid sites, an effect largely overlooked by previous interpretations of sequence evolution asymmetry.
Systematic correction of RMAs in variant calling enhances the power of next-generation sequencing techniques in clinical practice and helps avoid potentially costly mistakes in interpretation of sequencing data.
Current sequencing technology allows results to be available in less than 48 h, though the interpretation of sequencing results could take longer.
Recommendations are given that would help to minimize erroneous interpretation of sequencing results in mtDNA studies in tumorigenesis.
In addition, there is a clear need for data analysis algorithms and specialized bioinformatics and visualization tools to facilitate rapid, robust, and repeatable interpretation of sequencing results [21], [22].
The resource will be made available to the research and medical community to guide the interpretation of sequencing projects.
On the other hand, tumor complexity and heterogeneity make the analysis and the interpretation of sequencing data even harder.
While biases in WES coverage of nucleotides in targeted regions are recognized, it is not well understood how repetition of WES improves the interpretation of sequencing results in a clinical diagnostic setting.
QW and JB performed the analysis and interpretation of sequencing data and SNP array data, participated in majority of the experiments mentioned in the paper, and co-wrote the manuscript.
Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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