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All variants were correctly identified at each mosaicism frequency for both sequencing runs (600x and 9000x).
All variants were correctly visualized in IGV, suggesting that sensitivity potentially can approximate 100%% through further optimization of variant calling software.
All these known variants were correctly called and no additional change was seen within the sequenced target (100% sensitivity and specificity).
However, all the known control samples with known BRCA pathogenic variants were correctly identified (4 cell lines, 2 explants) and the comparison of the different panels did not detect any additional mutations.
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By sampling a range-image database of natural scenes, we show that the perceptual effects elicited by the Müller-Lyer stimulus and its major variants are correctly predicted by the probability distributions of the possible physical sources underlying the relevant retinal images.
Nevertheless, the key enzymatic characteristics (e.g. Km, substrate inhibition) were indistinguishable for N-AChE-S and N-AChE-R as compared with the shorter variants (Fig S1C,D), indicating that the N-extended variants are correctly folded.
With completely random phasing, half of all pairs of variants are correctly phased relative to each other, and thus the lowest likely operational value for phase accuracy is zero, although we note for the sake of mathematical robustness that with a very small number of variants, discrete effects could reduce the phase accuracy to below zero.
This important L147P variant was correctly detected by the microarray.
If the variant is correctly designated and the variant description at nucleotide level is consistent with the proposed change at protein level, it is integrated into UniProtKB/Swiss-Prot in "Sequence annotation (Features)", "Natural variant" (Fig. 2).
However, even if a HLOF variant is correctly called, some seemingly damaging mutations may have little effect on the function of the protein if they can be rescued by other, nearby variants, or if they occur in more 'dispensable' sections of a protein, such as those in rare isoforms or HLOF mutations at the end of an open reading frame.
Of the simulated variants, 6783%3%) were correctly genotyped in all (generally 145 of 145) samples and only four relatively large (>7 bp) deletions were undetected in one or more samples (see Supplementary Table S7 online).
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CEO of Professional Science Editing for Scientists @ prosciediting.com