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For the purpose of discussion in this paper, we define "low-abundance" DRMs as mutations detected at <20% of viral quasi-species and "high-abundance" DRMs as mutations detected at ≥20% of viral quasi-species by ultra-deep sequencing.
Although paired maternal and infant sequences were phylogenetically related (data not shown), mutations detected at low frequencies in infants infected through late-breastfeeding were different from those observed in their mothers (Table 3).
Apart from mutations detected at the nucleotide level, CHDWiki readily incorporates copy number variations and other disease-linked chromosome anomalies.
All katG gene mutations detected at wild type probes were also present at mutant probes, as was the case with the inhA gene mutations (Table 2).
The M204I signature mutation was the primary basis for Telbivudine resistance, with secondary mutations detected at the L80, L180, and other codons.
All ASXL1 mutations detected at diagnosis remained unchanged during disease progression but were frequently accompanied with acquisition of other novel genetic alterations.
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The point mutation detected at exon 9 in five cases is Asp496Val.
The single nucleotide mutation detected at the GS3 gene between these two different grain-length groups, which changed a cysteine codon (TGC) in the small-grain group to a termination codon (TGA) in the large-grain group.
The most frequent mutation detected at the BRAF gene is a change at amino acid 600, which converts a Val to Glu (Val600→Glu, V600E) [ 72].
A PIK3CA E549D mutation detected at a low frequency (4%) in the Core 2 of Tumor 2 by AmpliSeq was analysed by limited copy number (LCN -HRM [ 29].
The frequency of these mutations in healthy newborns was about 100 times higher than the expected incidence of lymphocytic leukaemia, thereby possibly implying that this mutation, detected at birth, may be an early step in a causal chain leading to the disease.
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