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Notably, the SmartAmp2 method enables us to analyze mutations using a drop of whole blood and the dried blood spot.
We identified mutations using a pipeline specifically designed to accurately detect variants at very low fractions.
Patients' genotype was analyzed considering the most prevalent PM associated CYP2D6 mutations using a real-time PCR and hybridization based genotyping method.
Recent advances in the functional analysis of mutations using a heterologous expression system and genetically engineered animal models have provided significant insights into the underlying molecular mechanisms responsible for inherited arrhythmia.
We identified mutations using a simple scoring system to penalize polymorphisms that were likely to be due to homopolymer sequencing errors, which are caused by 454 sequencing technology, or misassembly errors, which are caused by assembly algorithms (Table S4; http://genomevolution.org/paper_supp_data/8-Ecoli-genomes-2010/).
Their frequency was compared to those with and without deleterious mutations using a permutation test.
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We engineered an efficient system to make Francisella tularensis deletion mutations using an unstable, poorly maintained plasmid to enhance the likelihood of homologous recombination.
Samples were sequenced for KRAS exon 2 mutations using an 189 bp amplicon.
We first assessed the kinase activities of oncogenic FGFR4K variants harboring the V550E, V550L, N535D, or N535K rhabomyosarcoma mutations using an in vitro peptide phosphorylation assay.
Similarly, targeting genes with somatic mutations using an investigational drug, requires access to a clinical trial or reimbursement for off-label use of targeted drugs with clinical outcome captured in a clinical registry study.
We explored nasal cell 8-hydroxy-2'-deoxyguanosine (8-OHdG), a major mutagenic lesion producing G-->T transversion musingons, using an immunohistochemical method, and DNA single strand breaks (ssb) using the single cell gel electrophoresis assay as biomarkers of oxidant exposure.
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